Defects in intrinsic and innate immunity

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Immunodeficiency Main Page

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Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[3], Anmol Pitliya, M.B.B.S. M.D.[4]

Overview

Defects in intrinsic and innate immunity can result in infection by bacteria, viruses, and fungi.

Classification


 
 
Defects in Intrinsic & Innate Immunity
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
(A) Bacterial and Parasitic Infections
 
(B) MSMD & Viral Infections


Bacterial and Parasitic infections

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Defects in Intrinsic & Innate Immunity: (A) Bacterial and Parasitic Infections
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Predisposition to Invasive Bacterial Infections (pyrogens)
 
 
 
 
 
 
 
 
 
 
 
Predisposition to Parasitic & Fungal Infections
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
IRAK4 Deficiency, IRAK4, AR, MyD88 Deficiency, MYD88, AR
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Osteopetrosis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
IRAK-1 Deficiency:IRAK1,XL
 
 
 
 
 
 
 
 
 
Predisposition to mucocutaneous candidiasis(CMC)
 
 
 
 
CARD9 Deficiency, CARD9, AR
 
 
 
 
 
 
 
 
 
Hyderadenitis Suppurativa
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
TIRAP Deficiency, TIRAP, AR
 
 
 
 
 
 
 
 
 
STAT1 GOF, STAT1, AD
 
 
 
 
Trypanosomiasis APOL1, AD
 
 
 
 
 
 
 
 
 
Acute liver failure due to NBAS deficiency, NBAS, AR
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Isolated Congenital Asplenia, RPSA, AD; HMOX, AR
 
 
 
 
 
 
 
 
 
IL-17F Deficiency, IL-17F, AD
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Acute necrotizing encephalopathy, RANBP2, AD
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
IL-17RA Deficiency, IL-17RA, AR
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
IL-17RC Deficiency, IL-17RC, AR
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
ACT1 Deficiency, ACT1, AR
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 


MSMD and Viral Infections


 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Defects in Intrinsic & Innate Immunity: (B) MSMD & Viral Infections
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Mendelian susceptibility to mycobacterial disease(MSMD)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Predominant susceptibility to viral infections
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Severe Phenotypes
 
 
 
Moderate Phenotypes
 
 
 
 
 
 
 
 
 
 
Epidermodysplasia verruciformis(HPV)
 
 
 
 
 
Predisposition to severe viral infections
 
 
 
 
Herpes simplex encephalitis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Complete IFNGR1 def: and IFNGR2 def:, IFNGR1,IFNGR2,AR
 
 
 
 
 
 
IL12 & 23 receptor B1 chain def:, IL12P40 def:, STAT1 LOF, Partial IFNYR1 & 2, AD IFNGR1, TyK2 def:
 
 
 
 
 
 
 
 
 
 
 
EVER1 def:, TMC6, AR
 
 
 
 
 
 
STAT1 def: (AR LOF)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
ISG15 def:, ISG15,AR; Macrophage Gp91 Phox def:CYBB,XL,IRG8 def:,IRF8,AD; IRF8 def:, IRF8 AR; RORc def:, ROCR,AR; JACK1(LOF),JAK1,AR
 
 
 
 
 
 
 
 
 
 
 
EVER2 def:, TMC8,AR
 
 
 
 
 
 
STAT2 def: (STAT2 AR)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) Syndrome, CXCR4, AD,GOF
 
 
 
 
 
 
IRF7 def: (IRF7,AR)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
IFNAR2 def: (IFNAR2,AR)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD16 def: (FCGR3A,AR)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
MDA5 def: (LOF), IFIH1,AR
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 


IRAK4 Deficiency

IRAK1 Deficiency

TIRAP Deficiency

RPSA Deficiency

STAT1 GOF

IL17F Deficiency

IL17RA Deficiency

IL17RC Deficiency

ACT1 Deficiency

CARD9 Deficiency

Trypanosomiasis (APOL1)

Osteopetrosis

Hidradenitis Suppurativa

NBAS Deficiency

RANBP2 Deficiency

IFNGR1 Deficiency

IL12 & IL23 Receptor B1 Chain Deficiency

ISG15 Deficiency

EVER1 Deficiency

EVER2 Deficiency

WHIM Syndrome

STAT1 Deficiency

STAT2 Deficiency

IRF7 Deficiency

CD16 Deficiency

MDA5 Deficiency

Herpes Simplex Encephalitis

References

  1. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  2. Capucine Picard, Anne Puel, Marion Bonnet, Cheng-Lung Ku, Jacinta Bustamante, Kun Yang, Claire Soudais, Stephanie Dupuis, Jacqueline Feinberg, Claire Fieschi, Carole Elbim, Remi Hitchcock, David Lammas, Graham Davies, Abdulaziz Al-Ghonaium, Hassan Al-Rayes, Sulaiman Al-Jumaah, Sami Al-Hajjar, Ibrahim Zaid Al-Mohsen, Husn H. Frayha, Rajivi Rucker, Thomas R. Hawn, Alan Aderem, Haysam Tufenkeji, Soichi Haraguchi, Noorbibi K. Day, Robert A. Good, Marie-Anne Gougerot-Pocidalo, Adrian Ozinsky & Jean-Laurent Casanova (2003). "Pyogenic bacterial infections in humans with IRAK-4 deficiency". Science (New York, N.Y.). 299 (5615): 2076–2079. doi:10.1126/science.1081902. PMID 12637671. Unknown parameter |month= ignored (help)
  3. 3.0 3.1 Takada, Hidetoshi; Ishimura, Masataka; Takimoto, Tomohito; Kohagura, Toaki; Yoshikawa, Hideto; Imaizumi, Masue; Shichijyou, Koichi; Shimabukuro, Yoko; Kise, Tomoo; Hyakuna, Nobuyuki; Ohara, Osamu; Nonoyama, Shigeaki; Hara, Toshiro (2016). "Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency". Medicine. 95 (4): e2437. doi:10.1097/MD.0000000000002437. ISSN 0025-7974.
  4. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  5. Chaim O. Jacob, Jiankun Zhu, Don L. Armstrong, Mei Yan, Jie Han, Xin J. Zhou, James A. Thomas, Andreas Reiff, Barry L. Myones, Joshua O. Ojwang, Kenneth M. Kaufman, Marisa Klein-Gitelman, Deborah McCurdy, Linda Wagner-Weiner, Earl Silverman, Julie Ziegler, Jennifer A. Kelly, Joan T. Merrill, John B. Harley, Rosalind Ramsey-Goldman, Luis M. Vila, Sang-Cheol Bae, Timothy J. Vyse, Gary S. Gilkeson, Patrick M. Gaffney, Kathy L. Moser, Carl D. Langefeld, Raphael Zidovetzki & Chandra Mohan (2009). "Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus". Proceedings of the National Academy of Sciences of the United States of America. 106 (15): 6256–6261. doi:10.1073/pnas.0901181106. PMID 19329491. Unknown parameter |month= ignored (help)
  6. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  7. Laura Israel, Ying Wang, Katarzyna Bulek, Erika Della Mina, Zhao Zhang, Vincent Pedergnana, Maya Chrabieh, Nicole A. Lemmens, Vanessa Sancho-Shimizu, Marc Descatoire, Theo Lasseau, Elisabeth Israelsson, Lazaro Lorenzo, Ling Yun, Aziz Belkadi, Andrew Moran, Leonard E. Weisman, Francois Vandenesch, Frederic Batteux, Sandra Weller, Michael Levin, Jethro Herberg, Avinash Abhyankar, Carolina Prando, Yuval Itan, Willem J. B. van Wamel, Capucine Picard, Laurent Abel, Damien Chaussabel, Xiaoxia Li, Bruce Beutler, Peter D. Arkwright, Jean-Laurent Casanova & Anne Puel (2017). "Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity". Cell. 168 (5): 789–800. doi:10.1016/j.cell.2017.01.039. PMID 28235196. Unknown parameter |month= ignored (help)
  8. Paul J. Maglione, Noa Simchoni & Charlotte Cunningham-Rundles (2015). "Toll-like receptor signaling in primary immune deficiencies". Annals of the New York Academy of Sciences. 1356: 1–21. doi:10.1111/nyas.12763. PMID 25930993. Unknown parameter |month= ignored (help)
  9. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  10. Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R. Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, Capucine Picard, Laurent Abel, Lluis Quintana-Murci, Saul N. Faust, Anthony P. Williams, Richard Baretto, Michael Duddridge, Usha Kini, Andrew J. Pollard, Catherine Gaud, Pierre Frange, Daniel Orbach, Jean-Francois Emile, Jean-Louis Stephan, Ricardo Sorensen, Alessandro Plebani, Lennart Hammarstrom, Mary Ellen Conley, Licia Selleri & Jean-Laurent Casanova (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science (New York, N.Y.). 340 (6135): 976–978. doi:10.1126/science.1234864. PMID 23579497. Unknown parameter |month= ignored (help)
  11. Shigeo Iijima (2017). "Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review". BMC infectious diseases. 17 (1): 777. doi:10.1186/s12879-017-2896-5. PMID 29254492. Unknown parameter |month= ignored (help)
  12. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  13. Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachee-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stephane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova & Anne Puel (2016). "Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype". Blood. 127 (25): 3154–3164. doi:10.1182/blood-2015-11-679902. PMID 27114460. Unknown parameter |month= ignored (help)
  14. Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachee-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stephane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova & Anne Puel (2016). "Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype". Blood. 127 (25): 3154–3164. doi:10.1182/blood-2015-11-679902. PMID 27114460. Unknown parameter |month= ignored (help)
  15. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  16. Fei Li, Peipei Liu, Ya Guo, Zhenliang Han, Yedan Liu, Yuanyuan Wang, Long Song, Jianguo Cheng & Zongbo Chen (2018). "Association of Interleukin-17F gene polymorphisms with susceptibility to severe enterovirus 71 infection in Chinese children". Archives of virology. 163 (7): 1933–1939. doi:10.1007/s00705-018-3807-9. PMID 29549443. Unknown parameter |month= ignored (help)
  17. Alireza Zare Bidoki, Ahmad Massoud, Shamsolmoulouk Najafi, Mahsa Mohammadzadeh & Nima Rezaei (2018). "Autosomal dominant deficiency of the interleukin-17F in recurrent aphthous stomatitis: Possible novel mutation in a new entity". Gene. 654: 64–68. doi:10.1016/j.gene.2018.02.041. PMID 29458167. Unknown parameter |month= ignored (help)
  18. Anna R. Huppler, Shrinivas Bishu & Sarah L. Gaffen (2012). "Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy". Arthritis research & therapy. 14 (4): 217. doi:10.1186/ar3893. PMID 22838497. Unknown parameter |month= ignored (help)
  19. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  20. Achilleas Floudas, Sean P. Saunders, Tara Moran, Christian Schwartz, Emily Hams, Denise C. Fitzgerald, James A. Johnston, Graham S. Ogg, Andrew N. McKenzie, Patrick T. Walsh & Padraic G. Fallon (2017). "IL-17 Receptor A Maintains and Protects the Skin Barrier To Prevent Allergic Skin Inflammation". Journal of immunology (Baltimore, Md. : 1950). 199 (2): 707–717. doi:10.4049/jimmunol.1602185. PMID 28615416. Unknown parameter |month= ignored (help)
  21. Romain Levy, Satoshi Okada, Vivien Beziat, Kunihiko Moriya, Caini Liu, Louis Yi Ann Chai, Melanie Migaud, Fabian Hauck, Amein Al Ali, Cyril Cyrus, Chittibabu Vatte, Turkan Patiroglu, Ekrem Unal, Marie Ferneiny, Nobuyuki Hyakuna, Serdar Nepesov, Matias Oleastro, Aydan Ikinciogullari, Figen Dogu, Takaki Asano, Osamu Ohara, Ling Yun, Erika Della Mina, Didier Bronnimann, Yuval Itan, Florian Gothe, Jacinta Bustamante, Stephanie Boisson-Dupuis, Natalia Tahuil, Caner Aytekin, Aicha Salhi, Saleh Al Muhsen, Masao Kobayashi, Julie Toubiana, Laurent Abel, Xiaoxia Li, Yildiz Camcioglu, Fatih Celmeli, Christoph Klein, Suzan A. AlKhater, Jean-Laurent Casanova & Anne Puel (2016). "Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency". Proceedings of the National Academy of Sciences of the United States of America. 113 (51): E8277–E8285. doi:10.1073/pnas.1618300114. PMID 27930337. Unknown parameter |month= ignored (help)
  22. Romain Levy, Satoshi Okada, Vivien Beziat, Kunihiko Moriya, Caini Liu, Louis Yi Ann Chai, Melanie Migaud, Fabian Hauck, Amein Al Ali, Cyril Cyrus, Chittibabu Vatte, Turkan Patiroglu, Ekrem Unal, Marie Ferneiny, Nobuyuki Hyakuna, Serdar Nepesov, Matias Oleastro, Aydan Ikinciogullari, Figen Dogu, Takaki Asano, Osamu Ohara, Ling Yun, Erika Della Mina, Didier Bronnimann, Yuval Itan, Florian Gothe, Jacinta Bustamante, Stephanie Boisson-Dupuis, Natalia Tahuil, Caner Aytekin, Aicha Salhi, Saleh Al Muhsen, Masao Kobayashi, Julie Toubiana, Laurent Abel, Xiaoxia Li, Yildiz Camcioglu, Fatih Celmeli, Christoph Klein, Suzan A. AlKhater, Jean-Laurent Casanova & Anne Puel (2016). "Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency". Proceedings of the National Academy of Sciences of the United States of America. 113 (51): E8277–E8285. doi:10.1073/pnas.1618300114. PMID 27930337. Unknown parameter |month= ignored (help)
  23. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  24. Wenting Wu, Ming Jin, Yujuan Wang, Baoying Liu, Defen Shen, Ping Chen, Susan Hannes, Zhiyu Li, Sima Hirani, Shayma Jawad, H. Nida Sen, Chi-Chao Chan, Robert B. Nussenblatt & Lai Wei (2014). "Overexpression of IL-17RC associated with ocular sarcoidosis". Journal of translational medicine. 12: 152. doi:10.1186/1479-5876-12-152. PMID 24885153. Unknown parameter |month= ignored (help)
  25. Song Zhou, Xu-Sheng Qiu, Ze-Zhang Zhu, Wei-Fei Wu, Zhen Liu & Yong Qiu (2012). "A single-nucleotide polymorphism rs708567 in the IL-17RC gene is associated with a susceptibility to and the curve severity of adolescent idiopathic scoliosis in a Chinese Han population: a case-control study". BMC musculoskeletal disorders. 13: 181. doi:10.1186/1471-2474-13-181. PMID 22999050. Unknown parameter |month= ignored (help)
  26. Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Aziz Belkadi, Romain Levy, Melanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova & Anne Puel (2015). "Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis". The Journal of experimental medicine. 212 (5): 619–631. doi:10.1084/jem.20141065. PMID 25918342. Unknown parameter |month= ignored (help)
  27. Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Aziz Belkadi, Romain Levy, Melanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova & Anne Puel (2015). "Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis". The Journal of experimental medicine. 212 (5): 619–631. doi:10.1084/jem.20141065. PMID 25918342. Unknown parameter |month= ignored (help)
  28. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  29. Youcun Qian, Natalia Giltiay, Jianhua Xiao, Yue Wang, Jun Tian, Shuhua Han, Martin Scott, Robert Carter, Trine N. Jorgensen & Xiaoxia Li (2008). "Deficiency of Act1, a critical modulator of B cell function, leads to development of Sjogren's syndrome". European journal of immunology. 38 (8): 2219–2228. doi:10.1002/eji.200738113. PMID 1862435. Unknown parameter |month= ignored (help)
  30. Mitsuha Hayashi, Tomomitsu Hirota, Hidehisa Saeki, Hidemi Nakagawa, Yozo Ishiuji, Hiroyuki Matsuzaki, Yuichiro Tsunemi, Toyoaki Kato, Sayaka Shibata, Makoto Sugaya, Shinichi Sato, Yayoi Tada, Satoru Doi, Akihiko Miyatake, Kouji Ebe, Emiko Noguchi, Tamotsu Ebihara, Masayuki Amagai, Hitokazu Esaki, Satoshi Takeuchi, Masutaka Furue & Mayumi Tamari (2014). "Genetic polymorphism in the TRAF3IP2 gene is associated with psoriasis vulgaris in a Japanese population". Journal of dermatological science. 73 (3): 264–265. doi:10.1016/j.jdermsci.2013.11.012. PMID 24373565. Unknown parameter |month= ignored (help)
  31. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  32. Christina Gavino, Sibylle Mellinghoff, Oliver A. Cornely, Marija Landekic, Catherine Le, Melanie Langelier, Makan Golizeh, Susanna Proske & Donald C. Vinh (2018). "Novel bi-allelic splice mutations in CARD9 causing adult-onset Candida endophthalmitis". Mycoses. 61 (1): 61–65. doi:10.1111/myc.12701. PMID 28984994. Unknown parameter |month= ignored (help)
  33. Ana Karina Alves de Medeiros, Evelyn Lodewick, Delfien J. A. Bogaert, Filomeen Haerynck, Sabine Van Daele, Bart Lambrecht, Sara Bosma, Laure Vanderdonckt, Olivier Lortholary, Melanie Migaud, Jean-Laurent Casanova, Anne Puel, Fanny Lanternier, Jo Lambert, Lieve Brochez & Melissa Dullaers (2016). "Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency". Journal of clinical immunology. 36 (3): 204–209. doi:10.1007/s10875-016-0255-8. PMID 26961233. Unknown parameter |month= ignored (help)
  34. Hengst, Meike; Naehrlich, Lutz; Mahavadi, Poornima; Grosse-Onnebrink, Joerg; Terheggen-Lagro, Suzanne; Skanke, Lars Høsøien; Schuch, Luise A.; Brasch, Frank; Guenther, Andreas; Reu, Simone; Ley-Zaporozhan, Julia; Griese, Matthias (2018). "Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood". Orphanet Journal of Rare Diseases. 13 (1). doi:10.1186/s13023-018-0780-z. ISSN 1750-1172.
  35. Etienne Pays & Benoit Vanhollebeke (2009). "Human innate immunity against African trypanosomes". Current opinion in immunology. 21 (5): 493–498. doi:10.1016/j.coi.2009.05.024. PMID 19559585. Unknown parameter |month= ignored (help)
  36. David Perez-Morga, Benoit Vanhollebeke, Francoise Paturiaux-Hanocq, Derek P. Nolan, Laurence Lins, Fabrice Homble, Luc Vanhamme, Patricia Tebabi, Annette Pays, Philippe Poelvoorde, Alain Jacquet, Robert Brasseur & Etienne Pays (2005). "Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes". Science (New York, N.Y.). 309 (5733): 469–472. doi:10.1126/science.1114566. PMID 16020735. Unknown parameter |month= ignored (help)
  37. Bart Cuypers, Laurence Lecordier, Conor J. Meehan, Frederik Van den Broeck, Hideo Imamura, Philippe Buscher, Jean-Claude Dujardin, Kris Laukens, Achim Schnaufer, Caroline Dewar, Michael Lewis, Oliver Balmer, Thomas Azurago, Sardick Kyei-Faried, Sally-Ann Ohene, Boateng Duah, Prince Homiah, Ebenezer Kofi Mensah, Francis Anleah, Jose Ramon Franco, Etienne Pays & Stijn Deborggraeve (2016). "Apolipoprotein L1 Variant Associated with Increased Susceptibility to Trypanosome Infection". mBio. 7 (2): e02198–e02115. doi:10.1128/mBio.02198-15. PMID 27073096. Unknown parameter |month= ignored (help)
  38. August Stich, Paulo M. Abel & Sanjeev Krishna (2002). "Human African trypanosomiasis". BMJ (Clinical research ed.). 325 (7357): 203–206. PMID 12142311. Unknown parameter |month= ignored (help)
  39. August Stich, Paulo M. Abel & Sanjeev Krishna (2002). "Human African trypanosomiasis". BMJ (Clinical research ed.). 325 (7357): 203–206. PMID 12142311. Unknown parameter |month= ignored (help)
  40. August Stich, Paulo M. Abel & Sanjeev Krishna (2002). "Human African trypanosomiasis". BMJ (Clinical research ed.). 325 (7357): 203–206. PMID 12142311. Unknown parameter |month= ignored (help)
  41. Zornitza Stark & Ravi Savarirayan (2009). "Osteopetrosis". Orphanet journal of rare diseases. 4: 5. doi:10.1186/1750-1172-4-5. PMID 19232111. Unknown parameter |month= ignored (help)
  42. Mininder S. Kocher & James R. Kasser (2003). "Osteopetrosis". American journal of orthopedics (Belle Mead, N.J.). 32 (5): 222–228. PMID 12772872. Unknown parameter |month= ignored (help)
  43. Zornitza Stark & Ravi Savarirayan (2009). "Osteopetrosis". Orphanet journal of rare diseases. 4: 5. doi:10.1186/1750-1172-4-5. PMID 19232111. Unknown parameter |month= ignored (help)
  44. Zornitza Stark & Ravi Savarirayan (2009). "Osteopetrosis". Orphanet journal of rare diseases. 4: 5. doi:10.1186/1750-1172-4-5. PMID 19232111. Unknown parameter |month= ignored (help)
  45. H. Kurzen, I. Kurokawa, G. B. E. Jemec, L. Emtestam, K. Sellheyer, E. J. Giamarellos-Bourboulis, I. Nagy, F. G. Bechara, K. Sartorius, J. Lapins, D. Krahl, P. Altmeyer, J. Revuz & C. C. Zouboulis (2008). "What causes hidradenitis suppurativa?". Experimental dermatology. 17 (5): 455–456. doi:10.1111/j.1600-0625.2008.00712_1.x. PMID 18400064. Unknown parameter |month= ignored (help)
  46. Nicolo Scuderi, Ambra Monfrecola, Luca Andrea Dessy, Gabriella Fabbrocini, Matteo Megna & Giuseppe Monfrecola (2017). "Medical and Surgical Treatment of Hidradenitis Suppurativa: A Review". Skin appendage disorders. 3 (2): 95–110. doi:10.1159/000462979. PMID 28560220. Unknown parameter |month= ignored (help)
  47. Maddalena Napolitano, Matteo Megna, Elena A. Timoshchuk, Cataldo Patruno, Nicola Balato, Gabriella Fabbrocini & Giuseppe Monfrecola (2017). "Hidradenitis suppurativa: from pathogenesis to diagnosis and treatment". Clinical, cosmetic and investigational dermatology. 10: 105–115. doi:10.2147/CCID.S111019. PMID 28458570.
  48. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  49. Nuria Garcia Segarra, Diana Ballhausen, Heather Crawford, Matthieu Perreau, Belinda Campos-Xavier, Karin van Spaendonck-Zwarts, Cees Vermeer, Michel Russo, Pierre-Yves Zambelli, Brian Stevenson, Beryl Royer-Bertrand, Carlo Rivolta, Fabio Candotti, Sheila Unger, Francis L. Munier, Andrea Superti-Furga & Luisa Bonafe (2015). "NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina". American journal of medical genetics. Part A. 167A (12): 2902–2912. doi:10.1002/ajmg.a.37338. PMID 26286438. Unknown parameter |month= ignored (help)
  50. Jia-Qi Li, Yi-Ling Qiu, Jing-Yu Gong, Li-Min Dou, Yi Lu, A. S. Knisely, Mei-Hong Zhang, Wei-Sha Luan & Jian-She Wang (2017). "Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study". BMC gastroenterology. 17 (1): 77. doi:10.1186/s12876-017-0636-3. PMID 28629372. Unknown parameter |month= ignored (help)
  51. Christian Staufner, Tobias B. Haack, Marlies G. Kopke, Beate K. Straub, Stefan Kolker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Dominic Lenz, Joachim Kuhr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, John A. Ozolek, Johannes Zschocke, Alice Kuster, Anke Dick, Anib M. Das, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Holger Prokisch & Georg F. Hoffmann (2016). "Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts". Journal of inherited metabolic disease. 39 (1): 3–16. doi:10.1007/s10545-015-9896-7. PMID 26541327. Unknown parameter |month= ignored (help)
  52. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  53. 53.0 53.1 Singh, Rahul R.; Sedani, Sagar; Lim, Ming; Wassmer, Evangeline; Absoud, Michael (2015). "RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype". European Journal of Paediatric Neurology. 19 (2): 106–113. doi:10.1016/j.ejpn.2014.11.010. ISSN 1090-3798.
  54. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  55. Esther van de Vosse & Jaap T. van Dissel (2017). "IFN-gammaR1 defects: Mutation update and description of the IFNGR1 variation database". Human mutation. 38 (10): 1286–1296. doi:10.1002/humu.23302. PMID 28744922. Unknown parameter |month= ignored (help)
  56. Pau Morey, Lennart Pfannkuch, Ervinna Pang, Francesco Boccellato, Michael Sigal, Aki Imai-Matsushima, Victoria Dyer, Manuel Koch, Hans-Joachim Mollenkopf, Philipp Schlaermann & Thomas F. Meyer (2018). "Helicobacter pylori Depletes Cholesterol in Gastric Glands to Prevent Interferon Gamma Signaling and Escape the Inflammatory Response". Gastroenterology. 154 (5): 1391–1404. doi:10.1053/j.gastro.2017.12.008. PMID 29273450. Unknown parameter |month= ignored (help)
  57. Miriam Hetzel, Adele Mucci, Patrick Blank, Ariane Hai Ha Nguyen, Jan Schiller, Olga Halle, Mark-Philipp Kuhnel, Sandra Billig, Robert Meineke, Daniel Brand, Vanessa Herder, Wolfgang Baumgartner, Franz-Christoph Bange, Ralph Goethe, Danny Jonigk, Reinhold Forster, Bernhard Gentner, Jean-Laurent Casanova, Jacinta Bustamante, Axel Schambach, Ulrich Kalinke & Nico Lachmann (2018). "Hematopoietic stem cell gene therapy for IFNgammaR1 deficiency protects mice from mycobacterial infections". Blood. 131 (5): 533–545. doi:10.1182/blood-2017-10-812859. PMID 29233822. Unknown parameter |month= ignored (help)
  58. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  59. Pallipamu Prakash Babu, Pasupuleti Santhosh Kumar, Alladi Mohan, Bhattaram Siddhartha Kumar & Potukuchi Venkata Gurunadha Krishna Sarma (2017). "Novel mutations in the exon 5, intron 2 and 3' UTR regions of IL-12B gene were observed in clinically proven tuberculosis patients of south India". Cytokine. 99: 50–58. doi:10.1016/j.cyto.2017.07.003. PMID 28697396. Unknown parameter |month= ignored (help)
  60. Toshiki Nakajima, Hajime Yoshifuji, Masakazu Shimizu, Koji Kitagori, Kosaku Murakami, Ran Nakashima, Yoshitaka Imura, Masao Tanaka, Koichiro Ohmura, Fumihiko Matsuda, Chikashi Terao & Tsuneyo Mimori (2017). "A novel susceptibility locus in the IL12B region is associated with the pathophysiology of Takayasu arteritis through IL-12p40 and IL-12p70 production". Arthritis research & therapy. 19 (1): 197. doi:10.1186/s13075-017-1408-8. PMID 28874185. Unknown parameter |month= ignored (help)
  61. Wei Zhao, Yan Li, Jian Zhao & Shan Kang (2018). "A functional promoter polymorphism in interleukin 12B gene is associated with an increased risk of ovarian endometriosis". Gene. 666: 27–31. doi:10.1016/j.gene.2018.04.082. PMID 29738836. Unknown parameter |month= ignored (help)
  62. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  63. Dusan Bogunovic, Minji Byun, Larissa A. Durfee, Avinash Abhyankar, Ozden Sanal, Davood Mansouri, Sandra Salem, Irena Radovanovic, Audrey V. Grant, Parisa Adimi, Nahal Mansouri, Satoshi Okada, Vanessa L. Bryant, Xiao-Fei Kong, Alexandra Kreins, Marcela Moncada Velez, Bertrand Boisson, Soheila Khalilzadeh, Ugur Ozcelik, Ilad Alavi Darazam, John W. Schoggins, Charles M. Rice, Saleh Al-Muhsen, Marcel Behr, Guillaume Vogt, Anne Puel, Jacinta Bustamante, Philippe Gros, Jon M. Huibregtse, Laurent Abel, Stephanie Boisson-Dupuis & Jean-Laurent Casanova (2012). "Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency". Science (New York, N.Y.). 337 (6102): 1684–1688. doi:10.1126/science.1224026. PMID 22859821. Unknown parameter |month= ignored (help)
  64. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  65. Baki Akgul, Osman Kose, Mukerrem Safali, Karin Purdie, Rino Cerio, Charlotte Proby & Alan Storey (2007). "A distinct variant of Epidermodysplasia verruciformis in a Turkish family lacking EVER1 and EVER2 mutations". Journal of dermatological science. 46 (3): 214–216. doi:10.1016/j.jdermsci.2007.01.002. PMID 17306964. Unknown parameter |month= ignored (help)
  66. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  67. E. Imahorn, Z. Yuksel, I. Spoerri, G. Gurel, C. Imhof, Z. N. Saracoglu, A. E. Koku Aksu, P. L. Rady, S. K. Tyring, W. Kempf, P. H. Itin & B. Burger (2017). "Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease". Journal of the European Academy of Dermatology and Venereology : JEADV. 31 (10): 1722–1726. doi:10.1111/jdv.14431. PMID 28646613. Unknown parameter |month= ignored (help)
  68. Caihua Liang, Karl T. Kelsey, Michael D. McClean, Brock C. Christensen, Carmen J. Marsit, Margaret R. Karagas, Tim Waterboer, Michael Pawlita & Heather H. Nelson (2015). "A coding variant in TMC8 (EVER2) is associated with high risk HPV infection and head and neck cancer risk". PloS one. 10 (4): e0123716. doi:10.1371/journal.pone.0123716. PMID 25853559.
  69. Raffaele Badolato & Jean Donadieu (2017). "How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome". Blood. 130 (23): 2491–2498. doi:10.1182/blood-2017-02-708552. PMID 29066537. Unknown parameter |month= ignored (help)
  70. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  71. Lauren E. Heusinkveld, Erin Yim, Alexander Yang, Ari B. Azani, Qian Liu, Ji-Liang Gao, David H. McDermott & Philip M. Murphy (2017). "Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency". Expert opinion on orphan drugs. 5 (10): 813–825. doi:10.1080/21678707.2017.1375403. PMID 29057173.
  72. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  73. Legger, G. Elizabeth; Wulffraat, Nico M.; van Montfrans, Joris M. (2016). "Immunodeficiencies and the Rheumatic Diseases": 597–608.e5. doi:10.1016/B978-0-323-24145-8.00046-6.
  74. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  75. Sophie Hambleton, Stephen Goodbourn, Dan F. Young, Paul Dickinson, Siti M. B. Mohamad, Manoj Valappil, Naomi McGovern, Andrew J. Cant, Scott J. Hackett, Peter Ghazal, Neil V. Morgan & Richard E. Randall (2013). "STAT2 deficiency and susceptibility to viral illness in humans". Proceedings of the National Academy of Sciences of the United States of America. 110 (8): 3053–3058. doi:10.1073/pnas.1220098110. PMID 23391734. Unknown parameter |month= ignored (help)
  76. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  77. Michael J. Ciancanelli, Sarah X. L. Huang, Priya Luthra, Hannah Garner, Yuval Itan, Stefano Volpi, Fabien G. Lafaille, Celine Trouillet, Mirco Schmolke, Randy A. Albrecht, Elisabeth Israelsson, Hye Kyung Lim, Melina Casadio, Tamar Hermesh, Lazaro Lorenzo, Lawrence W. Leung, Vincent Pedergnana, Bertrand Boisson, Satoshi Okada, Capucine Picard, Benedicte Ringuier, Francoise Troussier, Damien Chaussabel, Laurent Abel, Isabelle Pellier, Luigi D. Notarangelo, Adolfo Garcia-Sastre, Christopher F. Basler, Frederic Geissmann, Shen-Ying Zhang, Hans-Willem Snoeck & Jean-Laurent Casanova (2015). "Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency". Science (New York, N.Y.). 348 (6233): 448–453. doi:10.1126/science.aaa1578. PMID 25814066. Unknown parameter |month= ignored (help)
  78. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  79. Jennifer T. Grier, Lisa R. Forbes, Linda Monaco-Shawver, Jennifer Oshinsky, T. Prescott Atkinson, Curtis Moody, Rahul Pandey, Kerry S. Campbell & Jordan S. Orange (2012). "Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity". The Journal of clinical investigation. 122 (10): 3769–3780. doi:10.1172/JCI64837. PMID 23006327. Unknown parameter |month= ignored (help)
  80. Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
  81. Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nurnberg, Rolf Kaiser, Raoul Heller & Hanno J. Bolz (2017). "Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation". Frontiers in genetics. 8: 130. doi:10.3389/fgene.2017.00130. PMID 29018476.
  82. Michael J. Bradshaw & Arun Venkatesan (2016). "Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management". Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 13 (3): 493–508. doi:10.1007/s13311-016-0433-7. PMID 27106239. Unknown parameter |month= ignored (help)
  83. Michael J. Bradshaw & Arun Venkatesan (2016). "Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management". Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 13 (3): 493–508. doi:10.1007/s13311-016-0433-7. PMID 27106239. Unknown parameter |month= ignored (help)
  84. Michael J. Bradshaw & Arun Venkatesan (2016). "Herpes Simplex Virus-1 Encephalitis in Adults: Pathophysiology, Diagnosis, and Management". Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 13 (3): 493–508. doi:10.1007/s13311-016-0433-7. PMID 27106239. Unknown parameter |month= ignored (help)