Auto-inflammatory disorders

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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]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Classification

 
 
 
 
 
 
 
 
 
 
 
 
Auto-inflammatory disorders
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Recurrent inflammation
 
 
 
Systemic inflammation with urticaria rash
 
 
 
Others
 
 
 
 
Sterile inflammation (skin/bone/joints)
 
 
 
 
 
Type 1 Interferonopathies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Familial Mediterranean Fever
 
 
 
 
Familial Cold Autoinflammatory Syndrome (CAPS)
 
 
 
 
CANDLE syndrome
 
Predominant on the bone/joints
 
 
Predominant on the skin
 
 
 
 
Aicardi-Goutieres syndrome
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Mevalonate kinase deficiency
 
 
 
 
Muckle Wells syndrome
 
 
 
 
COPA defect
 
 
 
Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia
 
 
 
Blau syndrome
 
 
 
Spondyloenchondro-dysplasia with immune dysregulation
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
TNF receptor-associated periodic syndrome; TRAPS
 
 
 
 
Neonatal onset multisystem inflammatory disease (CINCA syndrome)
 
 
 
 
NLRC4-MAS(Macrophage activating syndrome)
 
 
 
Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
 
 
 
CAMPS
 
 
 
STING-associated vasculopathy, infantile onset
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
PLAID (PLCg2 associated antibody deficiency and immune dysregulation), or APLAID
 
 
 
 
 
 
 
 
 
DIRA (Deficiency of the interleukin 1 receptor antagonist)
 
 
 
DITRA
 
 
 
ADA2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
NLRP1 deficiency
 
 
 
 
 
 
 
 
 
Cherubism
 
 
 
ADAM17 deficiency
 
 
 
XL reticulate pigmentary disorder
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
A20 haploinsufficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SLC29A3 mutation
 
 
 
USP18 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Otulipenia/ORAS
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
AP153 deficiency
 
 
 
 
 
 
 

Familial Mediterranean Fever

  • Autosomal recessive (AR) transmission.
  • It is caused by mutation in the pyrin gene (MEFV) on chromosome 16.
  • Patients present with recurrent fever and attacks of peritonitis.
  • Attacks are self-limiting, and require analgesia and non-steroidal anti-inflammatory drugs (such as diclofenac)[1]
  • Colchicine has also proved useful in reducing painful attacks.[2]

For detailed information about Familial mediterranean fever, click here Familial mediterranean fever

Mevalonate kinase deficiency (Hyper IgD syndrome)

  • Autosomal recessive(AR) transmission.
  • It is caused by homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12.
  • Patients present with cervical adenopathy, headache, arthralgia and diarrhea.
  • Laboratory findings include leukocytosis with high IgD levels.

TNF receptor-associated periodic syndrome

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the tumor necrosis factor receptor-1 gene (TNFRSF1A) on chromosome 12.[3]
  • Patients present with recurrent attacks of fever, abdominal pain, tender skin lesions, and myalgia.[4]
  • Etanercept has proven successful as treatment in a case of a young Danish child.[5]

Familial Cold Autoinflammatory Syndrome (CAPS)

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
  • Patients present with maculopapular rash, fever, chills and arthralgias after exposure to cold temperature.
  • For detailed information about Familial Cold Autoinflammatory Syndrome, click here Familial cold urticaria

Muckle Wells Syndrome (CAPS)

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
  • Patients present with skin rashes, arthralgias, and fever along with sensorineural deafness and renal amyloidosis.[6]

Neonatal onset multisystem inflammatory disease (CINCA syndrome)

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
  • Patients present with skin rashes, severe arthritis and chronic meningitis.[7]
  • Treatment with the IL1R antagonist Anakinra has shown marked improvement in a number of patients.[8]

PLAID (PLCg2 associated antibody deficiency and immune dysregulation), or APLAID

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the PLCG2 gene on chromosome 16.
  • Patients present with recurrent blistering skin lesions, arthralgia, eye inflammation, enterocolitis, cellulitis, and recurrent sinopulmonary infections.

A20 halpoinsufficiency

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the TNFAIP3 gene on chromosome 6.
  • Patients present with mucosal ulcers, particularly in the oral and genital areas, in addition to uveitis and arthritis.[9]

Candle syndrome

  • Autosomal recessive (AR) transmission.
  • It is caused by homozygous mutation in the PSMB8 gene on chromosome 6.
  • Patients present with erythematous plaques on the face and extremities, recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly and basal ganglia calcifications.

NLRC4-MAS(Macrophage activating syndrome)

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the NLRC4 gene on chromosome 2.
  • Patients present with severe enterocolitis and episodes of severe auto-inflammation.[10]

Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the PSTPIP1 gene on chromosome 15.
  • Patients present with pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne.[11]

Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)

  • Majeed syndrome (MJDS) is caused by homozygous mutation in the LPIN2 gene on chromosome 18.
  • Patients present with chronic, recurrent multifocal osteomyelitis (CRMO) and transfusion-dependant anemia (CDA).[12]

DIRA (Deficiency of the interleukin 1 receptor antagonist)

  • Autosomal recessive (AR) transmission.
  • It is caused by homozygous mutation in the IL1RN gene on chromosome 2.
  • Patients present with sterile multifocal osteomyelitis, periostitis, and pustulosis.[13]

Cherubism


References

  1. ↑ A. Livneh & P. Langevitz (2000). "Diagnostic and treatment concerns in familial Mediterranean fever". Bailliere's best practice & research. Clinical rheumatology. 14 (3): 477–498. doi:10.1053/berh.2000.0089. PMID 10985982. Unknown parameter |month= ignored (help)
  2. ↑ S. E. Goldfinger (1972). "Colchicine for familial Mediterranean fever". The New England journal of medicine. 287 (25): 1302. doi:10.1056/NEJM197212212872514. PMID 4636899. Unknown parameter |month= ignored (help)
  3. ↑ M. F. McDermott, B. W. Ogunkolade, E. M. McDermott, L. C. Jones, Y. Wan, K. A. Quane, J. McCarthy, M. Phelan, M. G. Molloy, R. J. Powell, C. I. Amos & G. A. Hitman (1998). "Linkage of familial Hibernian fever to chromosome 12p13". American journal of human genetics. 62 (6): 1446–1451. doi:10.1086/301886. PMID 9585614. Unknown parameter |month= ignored (help)
  4. ↑ L. M. Williamson, D. Hull, R. Mehta, W. G. Reeves, B. H. Robinson & P. J. Toghill (1982). "Familial Hibernian fever". The Quarterly journal of medicine. 51 (204): 469–480. PMID 7156325.
  5. ↑ Heike Weyhreter, Marianne Schwartz, Tim D. Kristensen, Niels H. Valerius & Anders Paerregaard (2003). "A new mutation causing autosomal dominant periodic fever syndrome in a Danish family". The Journal of pediatrics. 142 (2): 191–193. doi:10.1067/mpd.2003.15. PMID 12584543. Unknown parameter |month= ignored (help)
  6. ↑ Catherine Dode, Nathalie Le Du, Laurence Cuisset, Frank Letourneur, Jean-Marie Berthelot, Gerard Vaudour, Alain Meyrier, Richard A. Watts, David G. I. Scott, Anne Nicholls, Brigitte Granel, Camille Frances, Francois Garcier, Patrick Edery, Serge Boulinguez, Jean-Paul Domergues, Marc Delpech & Gilles Grateau (2002). "New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes". American journal of human genetics. 70 (6): 1498–1506. PMID 11992256. Unknown parameter |month= ignored (help)
  7. ↑ Jerome Feldmann, Anne-Marie Prieur, Pierre Quartier, Patrick Berquin, Stephanie Certain, Elisabetta Cortis, Dominique Teillac-Hamel, Alain Fischer & Genevieve de Saint Basile (2002). "Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes". American journal of human genetics. 71 (1): 198–203. PMID 12032915. Unknown parameter |month= ignored (help)
  8. ↑ C. Boschan, O. Witt, P. Lohse, I. Foeldvari, H. Zappel & L. Schweigerer (2006). "Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment". American journal of medical genetics. Part A. 140 (8): 883–886. doi:10.1002/ajmg.a.31148. PMID 16532456. Unknown parameter |month= ignored (help)
  9. ↑ Qing Zhou, Hongying Wang, Daniella M. Schwartz, Monique Stoffels, Yong Hwan Park, Yuan Zhang, Dan Yang, Erkan Demirkaya, Masaki Takeuchi, Wanxia Li Tsai, Jonathan J. Lyons, Xiaomin Yu, Claudia Ouyang, Celeste Chen, David T. Chin, Kristien Zaal, Settara C. Chandrasekharappa, Eric P Hanson, Zhen Yu, James C. Mullikin, Sarfaraz A. Hasni, Ingrid E. Wertz, Amanda K. Ombrello, Deborah L. Stone, Patrycja Hoffmann, Anne Jones, Beverly K. Barham, Helen L. Leavis, Annet van Royen-Kerkof, Cailin Sibley, Ezgi D. Batu, Ahmet Gul, Richard M. Siegel, Manfred Boehm, Joshua D. Milner, Seza Ozen, Massimo Gadina, JaeJin Chae, Ronald M. Laxer, Daniel L. Kastner & Ivona Aksentijevich (2016). "Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease". Nature genetics. 48 (1): 67–73. doi:10.1038/ng.3459. PMID 26642243. Unknown parameter |month= ignored (help)
  10. ↑ Neil Romberg, Khatoun Al Moussawi, Carol Nelson-Williams, Amy L. Stiegler, Erin Loring, Murim Choi, John Overton, Eric Meffre, Mustafa K. Khokha, Anita J. Huttner, Brian West, Nikolai A. Podoltsev, Titus J. Boggon, Barbara I. Kazmierczak & Richard P. Lifton (2014). "Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation". Nature genetics. 46 (10): 1135–1139. doi:10.1038/ng.3066. PMID 25217960. Unknown parameter |month= ignored (help)
  11. ↑ N. M. Lindor, T. M. Arsenault, H. Solomon, C. E. Seidman & M. T. McEvoy (1997). "A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome". Mayo Clinic proceedings. 72 (7): 611–615. doi:10.1016/S0025-6196(11)63565-9. PMID 9212761. Unknown parameter |month= ignored (help)
  12. ↑ H. A. Majeed, M. Kalaawi, D. Mohanty, A. S. Teebi, M. F. Tunjekar, F. al-Gharbawy, S. A. Majeed & A. H. al-Gazzar (1989). "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings". The Journal of pediatrics. 115 (5 Pt 1): 730–734. PMID 2809904. Unknown parameter |month= ignored (help)
  13. ↑ Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson, Paul Dancey, Joost Frenkel, Annet van Royen-Kerkhoff, Ron Laxer, Ulf Tedgard, Edward W. Cowen, Tuyet-Hang Pham, Matthew Booty, Jacob D. Estes, Netanya G. Sandler, Nicole Plass, Deborah L. Stone, Maria L. Turner, Suvimol Hill, John A. Butman, Rayfel Schneider, Paul Babyn, Hatem I. El-Shanti, Elena Pope, Karyl Barron, Xinyu Bing, Arian Laurence, Chyi-Chia R. Lee, Dawn Chapelle, Gillian I. Clarke, Kamal Ohson, Marc Nicholson, Massimo Gadina, Barbara Yang, Benjamin D. Korman, Peter K. Gregersen, P. Martin van Hagen, A. Elisabeth Hak, Marjan Huizing, Proton Rahman, Daniel C. Douek, Elaine F. Remmers, Daniel L. Kastner & Raphaela Goldbach-Mansky (2009). "An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist". The New England journal of medicine. 360 (23): 2426–2437. doi:10.1056/NEJMoa0807865. PMID 19494218. Unknown parameter |month= ignored (help)
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