Congenital defects of phagocytes: Difference between revisions

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==G6PC3 deficiency==
==G6PC3 deficiency==
*[[Autosomal recessive]] (AR) transmission.<ref>{{cite journal |vauthors=Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C |title=A syndrome with congenital neutropenia and mutations in G6PC3 |journal=N. Engl. J. Med. |volume=360 |issue=1 |pages=32–43 |date=January 2009 |pmid=1911830}}</ref>
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous mutation in the G6PC3 gene on [[chromosome 17]].
*Patients present with congenital [[neutropenia]], cardiac abnormalities, inner ear deafness, [[neonatal sepsis]] and a prominent superficial venous pattern.<ref>{{Cite journal
  | author = [[Kaan Boztug]], [[Giridharan Appaswamy]], [[Angel Ashikov]], [[Alejandro A. Schaffer]], [[Ulrich Salzer]], [[Jana Diestelhorst]], [[Manuela Germeshausen]], [[Gudrun Brandes]], [[Jacqueline Lee-Gossler]], [[Fatih Noyan]], [[Anna-Katherina Gatzke]], [[Milen Minkov]], [[Johann Greil]], [[Christian Kratz]], [[Theoni Petropoulou]], [[Isabelle Pellier]], [[Christine Bellanne-Chantelot]], [[Nima Rezaei]], [[Kirsten Monkemoller]], [[Noha Irani-Hakimeh]], [[Hans Bakker]], [[Rita Gerardy-Schahn]], [[Cornelia Zeidler]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
  | author = [[Kaan Boztug]], [[Giridharan Appaswamy]], [[Angel Ashikov]], [[Alejandro A. Schaffer]], [[Ulrich Salzer]], [[Jana Diestelhorst]], [[Manuela Germeshausen]], [[Gudrun Brandes]], [[Jacqueline Lee-Gossler]], [[Fatih Noyan]], [[Anna-Katherina Gatzke]], [[Milen Minkov]], [[Johann Greil]], [[Christian Kratz]], [[Theoni Petropoulou]], [[Isabelle Pellier]], [[Christine Bellanne-Chantelot]], [[Nima Rezaei]], [[Kirsten Monkemoller]], [[Noha Irani-Hakimeh]], [[Hans Bakker]], [[Rita Gerardy-Schahn]], [[Cornelia Zeidler]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
  | title = A syndrome with congenital neutropenia and mutations in G6PC3
  | title = A syndrome with congenital neutropenia and mutations in G6PC3
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  | pmid = 19118303
  | pmid = 19118303
}}</ref>
}}</ref>
*It is caused by homozygous mutation in the G6PC3 gene on [[chromosome 17]].
*Patients present with congenital [[neutropenia]], cardiac abnormalities, inner ear deafness, [[neonatal sepsis]] and a prominent superficial venous pattern.


==Glycogen storage disease type 1b==
==Glycogen storage disease type 1b==
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*[[Autosomal recessive]] (AR) transmission.<ref>{{cite journal |vauthors=Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K |title=Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11 |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue=2 |pages=426–31 |date=July 1998 |pmid=9675154 |doi=10.1006/bbrc.1998.8985 |url=}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the G6PT1 gene which encodes glucose-6-phosphate translocase, on [[chromosome 11]].
*Patients present with [[short stature]], [[Hepatomegaly (new)|hepatomegaly]], [[Hypertension, systemic|hypertension]], [[Xanthoma|eruptive xanthoma]] and [[hyperlipidemia]].<ref>{{Cite journal
  | author = [[T. Kuzuya]], [[A. Matsuda]], [[S. Yoshida]], [[K. Narisawa]], [[K. Tada]], [[T. Saito]] & [[M. Matsushita]]
  | author = [[T. Kuzuya]], [[A. Matsuda]], [[S. Yoshida]], [[K. Narisawa]], [[K. Tada]], [[T. Saito]] & [[M. Matsushita]]
  | title = An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies
  | title = An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies
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  | pmid = 6298622
  | pmid = 6298622
}}</ref>
}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the G6PT1 gene which encodes glucose-6-phosphate translocase, on [[chromosome 11]].<ref>{{cite journal |vauthors=Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K |title=Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11 |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue=2 |pages=426–31 |date=July 1998 |pmid=9675154 |doi=10.1006/bbrc.1998.8985 |url=}}</ref>
*Patients present with [[short stature]], [[Hepatomegaly (new)|hepatomegaly]], [[Hypertension, systemic|hypertension]], [[Xanthoma|eruptive xanthoma]] and [[hyperlipidemia]].
For more information on [[Glycogen storage disease type 1B|Glycogen storage disease type 1b]], [[Glycogen storage disease type 1B|click here]].
For more information on [[Glycogen storage disease type 1B|Glycogen storage disease type 1b]], [[Glycogen storage disease type 1B|click here]].


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==Barth Syndrome==
==Barth Syndrome==
*[[X-linked recessive]] (XLR) transmission.
*[[X-linked recessive]] (XLR) transmission.<ref>{{Cite journal
*It is caused by mutation in the tafazzin gene (TAZ) on [[X chromosome|chromosome X]].
*Patients present with [[dilated cardiomyopathy]], a predominantly proximal skeletal myopathy, [[growth retardation]], [[organic aciduria]], and [[neutropenia]].<ref>{{Cite journal
  | author = [[P. G. Barth]], [[H. R. Scholte]], [[J. A. Berden]], [[J. M. Van der Klei-Van Moorsel]], [[I. E. Luyt-Houwen]], [[E. T. Van 't Veer-Korthof]], [[J. J. Van der Harten]] & [[M. A. Sobotka-Plojhar]]
  | author = [[P. G. Barth]], [[H. R. Scholte]], [[J. A. Berden]], [[J. M. Van der Klei-Van Moorsel]], [[I. E. Luyt-Houwen]], [[E. T. Van 't Veer-Korthof]], [[J. J. Van der Harten]] & [[M. A. Sobotka-Plojhar]]
  | title = An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
  | title = An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
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  | pmid = 6142097
  | pmid = 6142097
}}</ref>
}}</ref>
*It is caused by mutation in the tafazzin gene (TAZ) on [[X chromosome|chromosome X]].
*Patients present with [[dilated cardiomyopathy]], a predominantly proximal skeletal myopathy, [[growth retardation]], [[organic aciduria]], and [[neutropenia]].
For more information on [[Barth Syndrome]], [[Barth Syndrome|click here]].
For more information on [[Barth Syndrome]], [[Barth Syndrome|click here]].


==Clericuzio syndrome (poikiloderma with neutropenia)==
==Clericuzio syndrome (poikiloderma with neutropenia)==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous or compound heterozygous mutation in the USB1 gene on [[chromosome 16]].
*Patients present with a gradual, centripetally spreading, papular erythematous rash on the limbs during the first year of life. [[Neutropenia]] may also be present.<ref>{{Cite journal
  | author = [[R. P. Erickson]]
  | author = [[R. P. Erickson]]
  | title = Southwestern Athabaskan (Navajo and Apache) genetic diseases
  | title = Southwestern Athabaskan (Navajo and Apache) genetic diseases
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  | pmid = 11258351
  | pmid = 11258351
}}</ref>
}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the USB1 gene on [[chromosome 16]].
*Patients present with a gradual, centripetally spreading, papular erythematous rash on the limbs during the first year of life. [[Neutropenia]] may also be present.


==VPS45 deficiency (SCN5)==
==VPS45 deficiency (SCN5)==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous mutation in the VPS45 gene on [[chromosome 1]].
*Patients present in childhood with poor weight gain, [[hepatosplenomegaly]], severe infections, [[hypergammaglobulinemia]], nephromegaly due to extramedullary hematopoiesis, and bone marrow fibrosis.<ref>{{Cite journal
  | author = [[Thierry Vilboux]], [[Atar Lev]], [[May Christine V. Malicdan]], [[Amos J. Simon]], [[Paivi Jarvinen]], [[Tomas Racek]], [[Jacek Puchalka]], [[Raman Sood]], [[Blake Carrington]], [[Kevin Bishop]], [[James Mullikin]], [[Marjan Huizing]], [[Ben Zion Garty]], [[Eran Eyal]], [[Baruch Wolach]], [[Ronit Gavrieli]], [[Amos Toren]], [[Michalle Soudack]], [[Osama M. Atawneh]], [[Tatiana Babushkin]], [[Ginette Schiby]], [[Andrew Cullinane]], [[Camila Avivi]], [[Sylvie Polak-Charcon]], [[Iris Barshack]], [[Ninette Amariglio]], [[Gideon Rechavi]], [[Jutte van der Werff ten Bosch]], [[Yair Anikster]], [[Christoph Klein]], [[William A. Gahl]] & [[Raz Somech]]
  | author = [[Thierry Vilboux]], [[Atar Lev]], [[May Christine V. Malicdan]], [[Amos J. Simon]], [[Paivi Jarvinen]], [[Tomas Racek]], [[Jacek Puchalka]], [[Raman Sood]], [[Blake Carrington]], [[Kevin Bishop]], [[James Mullikin]], [[Marjan Huizing]], [[Ben Zion Garty]], [[Eran Eyal]], [[Baruch Wolach]], [[Ronit Gavrieli]], [[Amos Toren]], [[Michalle Soudack]], [[Osama M. Atawneh]], [[Tatiana Babushkin]], [[Ginette Schiby]], [[Andrew Cullinane]], [[Camila Avivi]], [[Sylvie Polak-Charcon]], [[Iris Barshack]], [[Ninette Amariglio]], [[Gideon Rechavi]], [[Jutte van der Werff ten Bosch]], [[Yair Anikster]], [[Christoph Klein]], [[William A. Gahl]] & [[Raz Somech]]
  | title = A congenital neutrophil defect syndrome associated with mutations in VPS45
  | title = A congenital neutrophil defect syndrome associated with mutations in VPS45
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  | pmid = 23738510
  | pmid = 23738510
}}</ref>
}}</ref>
*It is caused by homozygous mutation in the VPS45 gene on [[chromosome 1]].
*Patients present in childhood with poor weight gain, [[hepatosplenomegaly]], severe infections, [[hypergammaglobulinemia]], nephromegaly due to extramedullary hematopoiesis, and bone marrow fibrosis.


==P14/LAMTOR2 deficiency==
==P14/LAMTOR2 deficiency==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*Patients present with [[short stature]], [[Hypopigmentation|hypopigmented]] skin, [[coarse facial features]] and recurrent bronchopulmonary infections.<ref>{{Cite journal
  | author = [[Georg Bohn]], [[Anna Allroth]], [[Gudrun Brandes]], [[Jens Thiel]], [[Erik Glocker]], [[Alejandro A. Schaffer]], [[Chozhavendan Rathinam]], [[Nicole Taub]], [[David Teis]], [[Cornelia Zeidler]], [[Ricardo A. Dewey]], [[Robert Geffers]], [[Jan Buer]], [[Lukas A. Huber]], [[Karl Welte]], [[Bodo Grimbacher]] & [[Christoph Klein]]
  | author = [[Georg Bohn]], [[Anna Allroth]], [[Gudrun Brandes]], [[Jens Thiel]], [[Erik Glocker]], [[Alejandro A. Schaffer]], [[Chozhavendan Rathinam]], [[Nicole Taub]], [[David Teis]], [[Cornelia Zeidler]], [[Ricardo A. Dewey]], [[Robert Geffers]], [[Jan Buer]], [[Lukas A. Huber]], [[Karl Welte]], [[Bodo Grimbacher]] & [[Christoph Klein]]
  | title = A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
  | title = A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
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  | pmid = 17195838
  | pmid = 17195838
}}</ref>
}}</ref>
*Patients present with [[short stature]], [[Hypopigmentation|hypopigmented]] skin, [[coarse facial features]] and recurrent bronchopulmonary infections.
      
      
==JAGN1 deficiency==
==JAGN1 deficiency==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*Patients present with aberrant myeloid cell homeostasis and congenital [[neutropenia]].<ref>{{Cite journal
  | author = [[Kaan Boztug]], [[Paivi M. Jarvinen]], [[Elisabeth Salzer]], [[Tomas Racek]], [[Sebastian Monch]], [[Wojciech Garncarz]], [[E. Michael Gertz]], [[Alejandro A. Schaffer]], [[Aristotelis Antonopoulos]], [[Stuart M. Haslam]], [[Lena Schieck]], [[Jacek Puchalka]], [[Jana Diestelhorst]], [[Giridharan Appaswamy]], [[Brigitte Lescoeur]], [[Roberto Giambruno]], [[Johannes W. Bigenzahn]], [[Ulrich Elling]], [[Dietmar Pfeifer]], [[Cecilia Dominguez Conde]], [[Michael H. Albert]], [[Karl Welte]], [[Gudrun Brandes]], [[Roya Sherkat]], [[Jutte van der Werff Ten Bosch]], [[Nima Rezaei]], [[Amos Etzioni]], [[Christine Bellanne-Chantelot]], [[Giulio Superti-Furga]], [[Josef M. Penninger]], [[Keiryn L. Bennett]], [[Julia von Blume]], [[Anne Dell]], [[Jean Donadieu]] & [[Christoph Klein]]
  | author = [[Kaan Boztug]], [[Paivi M. Jarvinen]], [[Elisabeth Salzer]], [[Tomas Racek]], [[Sebastian Monch]], [[Wojciech Garncarz]], [[E. Michael Gertz]], [[Alejandro A. Schaffer]], [[Aristotelis Antonopoulos]], [[Stuart M. Haslam]], [[Lena Schieck]], [[Jacek Puchalka]], [[Jana Diestelhorst]], [[Giridharan Appaswamy]], [[Brigitte Lescoeur]], [[Roberto Giambruno]], [[Johannes W. Bigenzahn]], [[Ulrich Elling]], [[Dietmar Pfeifer]], [[Cecilia Dominguez Conde]], [[Michael H. Albert]], [[Karl Welte]], [[Gudrun Brandes]], [[Roya Sherkat]], [[Jutte van der Werff Ten Bosch]], [[Nima Rezaei]], [[Amos Etzioni]], [[Christine Bellanne-Chantelot]], [[Giulio Superti-Furga]], [[Josef M. Penninger]], [[Keiryn L. Bennett]], [[Julia von Blume]], [[Anne Dell]], [[Jean Donadieu]] & [[Christoph Klein]]
  | title = JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
  | title = JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
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  | pmid = 25129144
  | pmid = 25129144
}}</ref>
}}</ref>
*Patients present with aberrant myeloid cell homeostasis and congenital [[neutropenia]].


==3-Methylglutaconic aciduria==
==3-Methylglutaconic aciduria==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by homozygous or compound heterozygous mutation in the CLPB gene on [[chromosome 11]], which leads to by increased levels of [[3-methylglutaconic acid]] (3-MGA) associated with neurologic deterioration and [[neutropenia]].
*Patients present with delayed psychomotor development, congenital [[neutropenia]], [[brain atrophy]], [[microcephaly]], [[movement disorders]] and [[cataracts]].<ref>{{Cite journal
  | author = [[Saskia B. Wortmann]], [[Szymon Zietkiewicz]], [[Maria Kousi]], [[Radek Szklarczyk]], [[Tobias B. Haack]], [[Soren W. Gersting]], [[Ania C. Muntau]], [[Aleksandar Rakovic]], [[G. Herma Renkema]], [[Richard J. Rodenburg]], [[Tim M. Strom]], [[Thomas Meitinger]], [[M. Estela Rubio-Gozalbo]], [[Elzbieta Chrusciel]], [[Felix Distelmaier]], [[Christelle Golzio]], [[Joop H. Jansen]], [[Clara van Karnebeek]], [[Yolanda Lillquist]], [[Thomas Lucke]], [[Katrin Ounap]], [[Riina Zordania]], [[Joy Yaplito-Lee]], [[Hans van Bokhoven]], [[Johannes N. Spelbrink]], [[Frederic M. Vaz]], [[Mia Pras-Raves]], [[Rafal Ploski]], [[Ewa Pronicka]], [[Christine Klein]], [[Michel A. A. P. Willemsen]], [[Arjan P. M. de Brouwer]], [[Holger Prokisch]], [[Nicholas Katsanis]] & [[Ron A. Wevers]]
  | author = [[Saskia B. Wortmann]], [[Szymon Zietkiewicz]], [[Maria Kousi]], [[Radek Szklarczyk]], [[Tobias B. Haack]], [[Soren W. Gersting]], [[Ania C. Muntau]], [[Aleksandar Rakovic]], [[G. Herma Renkema]], [[Richard J. Rodenburg]], [[Tim M. Strom]], [[Thomas Meitinger]], [[M. Estela Rubio-Gozalbo]], [[Elzbieta Chrusciel]], [[Felix Distelmaier]], [[Christelle Golzio]], [[Joop H. Jansen]], [[Clara van Karnebeek]], [[Yolanda Lillquist]], [[Thomas Lucke]], [[Katrin Ounap]], [[Riina Zordania]], [[Joy Yaplito-Lee]], [[Hans van Bokhoven]], [[Johannes N. Spelbrink]], [[Frederic M. Vaz]], [[Mia Pras-Raves]], [[Rafal Ploski]], [[Ewa Pronicka]], [[Christine Klein]], [[Michel A. A. P. Willemsen]], [[Arjan P. M. de Brouwer]], [[Holger Prokisch]], [[Nicholas Katsanis]] & [[Ron A. Wevers]]
  | title = CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
  | title = CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
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  | pmid = 25597510
  | pmid = 25597510
}}</ref>
}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the CLPB gene on [[chromosome 11]], which leads to by increased levels of [[3-methylglutaconic acid]] (3-MGA) associated with neurologic deterioration and [[neutropenia]].
*Patients present with delayed psychomotor development, congenital [[neutropenia]], [[brain atrophy]], [[microcephaly]], [[movement disorders]] and [[cataracts]].
For more information on [[Barth Syndrome|3-Methylglutaconic aciduria]], [[3-methyl glutaconic aciduria|click here]].
For more information on [[Barth Syndrome|3-Methylglutaconic aciduria]], [[3-methyl glutaconic aciduria|click here]].


==[[SMARCD2]] deficiency==
==[[SMARCD2]] deficiency==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
| author = [[Maximilian Witzel]], [[Daniel Petersheim]], [[Yanxin Fan]], [[Ehsan Bahrami]], [[Tomas Racek]], [[Meino Rohlfs]], [[Jacek Puchalka]], [[Christian Mertes]], [[Julien Gagneur]], [[Christoph Ziegenhain]], [[Wolfgang Enard]], [[Asbjorg Stray-Pedersen]], [[Peter D. Arkwright]], [[Miguel R. Abboud]], [[Vahid Pazhakh]], [[Graham J. Lieschke]], [[Peter M. Krawitz]], [[Maik Dahlhoff]], [[Marlon R. Schneider]], [[Eckhard Wolf]], [[Hans-Peter Horny]], [[Heinrich Schmidt]], [[Alejandro A. Schaffer]] & [[Christoph Klein]]
| title = Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes
| journal = [[Nature genetics]]
| volume = 49
| issue = 5
| pages = 742–752
| year = 2017
| month = May
| doi = 10.1038/ng.3833
| pmid = 28369036
}}</ref>
*It is caused by a mutation in the [[SMARCD2|SMARCD2 gene]] on [[chromosome 17]].<ref>{{Cite journal
*It is caused by a mutation in the [[SMARCD2|SMARCD2 gene]] on [[chromosome 17]].<ref>{{Cite journal
  | author = [[H. Z. Ring]], [[V. Vameghi-Meyers]], [[W. Wang]], [[G. R. Crabtree]] & [[U. Francke]]
  | author = [[H. Z. Ring]], [[V. Vameghi-Meyers]], [[W. Wang]], [[G. R. Crabtree]] & [[U. Francke]]
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==Elastase deficiency (SCN1)==
==Elastase deficiency (SCN1)==
*[[Autosomal dominant]] (AD) transmission.
*[[Autosomal dominant]] (AD) transmission.<ref>{{Cite journal
| author = [[Julia Skokowa]], [[Manuela Germeshausen]], [[Cornelia Zeidler]] & [[Karl Welte]]
| title = Severe congenital neutropenia: inheritance and pathophysiology
| journal = [[Current opinion in hematology]]
| volume = 14
| issue = 1
| pages = 22–28
| year = 2007
| month = January
| pmid = 17133096
}}</ref>
*It is caused by a mutation in the ELANE gene on [[chromosome 19]].
*It is caused by a mutation in the ELANE gene on [[chromosome 19]].
*Patients present with  [[cyclic neutropenia]] starting in childhood with a cycle of approximately 21 days. Recurrent infections with fever are also common features.<ref>{{Cite journal
*Patients present with  [[cyclic neutropenia]] starting in childhood with a cycle of approximately 21 days. Recurrent infections with fever are also common features.<ref>{{Cite journal
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==HAX1 deficiency (Kostmann Disease) (SCN3)==
==HAX1 deficiency (Kostmann Disease) (SCN3)==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
| author = [[Manuela Germeshausen]], [[Magda Grudzien]], [[Cornelia Zeidler]], [[Hengameh Abdollahpour]], [[Sevgi Yetgin]], [[Nima Rezaei]], [[Matthias Ballmaier]], [[Bodo Grimbacher]], [[Karl Welte]] & [[Christoph Klein]]
| title = Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
| journal = [[Blood]]
| volume = 111
| issue = 10
| pages = 4954–4957
| year = 2008
| month = May
| doi = 10.1182/blood-2007-11-120667
| pmid = 18337561
}}</ref>
*It is caused by homozygous or compound heterozygous mutation in the HAX1 gene on [[chromosome 1]].
*It is caused by homozygous or compound heterozygous mutation in the HAX1 gene on [[chromosome 1]].
*Patients present with recurrent bacterial infections and neurologic abnormalities like psychomotor retardation and [[seizures]]. Patients are also at increased risk of developing [[leukemia]] and [[myelodysplastic syndrome]].<ref>{{Cite journal
*Patients present with recurrent bacterial infections and neurologic abnormalities like psychomotor retardation and [[seizures]]. Patients are also at increased risk of developing [[leukemia]] and [[myelodysplastic syndrome]].<ref>{{Cite journal
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==X-linked neutropenia/myelodysplasia WAS GOF==
==X-linked neutropenia/myelodysplasia WAS GOF==
*[[X-linked recessive]] transmission.
*[[X-linked recessive]] transmission.<ref>{{Cite journal
| author = [[K. Devriendt]], [[A. S. Kim]], [[G. Mathijs]], [[S. G. Frints]], [[M. Schwartz]], [[J. J. Van Den Oord]], [[G. E. Verhoef]], [[M. A. Boogaerts]], [[J. P. Fryns]], [[D. You]], [[M. K. Rosen]] & [[P. Vandenberghe]]
| title = Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
| journal = [[Nature genetics]]
| volume = 27
| issue = 3
| pages = 313–317
| year = 2001
| month = March
| doi = 10.1038/85886
| pmid = 11242115
}}</ref>
*Patients present with myeloid maturation arrest and [[monocytopenia]].
*Patients present with myeloid maturation arrest and [[monocytopenia]].


==G-CSF receptor deficiency==
==G-CSF receptor deficiency==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.
<ref>{{Cite journal
| author = [[Alexa Triot]], [[Paivi M. Jarvinen]], [[Juan I. Arostegui]], [[Dhaarini Murugan]], [[Naschla Kohistani]], [[Jose Luis Dapena Diaz]], [[Tomas Racek]], [[Jacek Puchalka]], [[E. Michael Gertz]], [[Alejandro A. Schaffer]], [[Daniel Kotlarz]], [[Dietmar Pfeifer]], [[Cristina Diaz de Heredia Rubio]], [[Mehmet Akif Ozdemir]], [[Turkan Patiroglu]], [[Musa Karakukcu]], [[Jose Sanchez de Toledo Codina]], [[Jordi Yague]], [[Ivo P. Touw]], [[Ekrem Unal]] & [[Christoph Klein]]
| title = Inherited biallelic CSF3R mutations in severe congenital neutropenia
| journal = [[Blood]]
| volume = 123
| issue = 24
| pages = 3811–3817
| year = 2014
| month = June
| doi = 10.1182/blood-2013-11-535419
| pmid = 24753537
}}</ref>
*It is caused by a mutation in [[CSF3R]] gene on [[chromosome 1]].
*It is caused by a mutation in [[CSF3R]] gene on [[chromosome 1]].


==Neutropenia with combined immune deficiency==
==Neutropenia with combined immune deficiency==
*[[Autosomal recessive]] (AR) transmission.
*[[Autosomal recessive]] (AR) transmission.<ref>{{Cite journal
*It is caused by a mutation in [[MKL1]] gene on [[chromosome 22]].<ref>{{Cite journal
  | author = [[T. Nagase]], [[R. Kikuno]], [[K. I. Ishikawa]], [[M. Hirosawa]] & [[O. Ohara]]
  | author = [[T. Nagase]], [[R. Kikuno]], [[K. I. Ishikawa]], [[M. Hirosawa]] & [[O. Ohara]]
  | title = Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro
  | title = Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro
Line 371: Line 425:
  | pmid = 10718198
  | pmid = 10718198
}}</ref>
}}</ref>
*It is caused by a mutation in [[MKL1]] gene on [[chromosome 22]].
*Patients present with [[lymphopenia]] and [[thrombocytopenia]].
*Patients present with [[lymphopenia]] and [[thrombocytopenia]].


Revision as of 16:52, 31 October 2018

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

Overview

Phagocytes are important cells of the immune system which have the ability to ingest and kill foreign pathogens encountered by the body. In congenital phagocyte cell defects, the ability of phagocytes to kill foreign pathogens is impaired, leading to widespread infections. Congenital defects of phagocytes can be divided into two types:

  1. Defects of phagocyte number.
  2. Defects of phagocyte function.

Classification

 
 
Congenital defects of Phagocyte
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Congenital defects of phagocyte number
 
Congenital defects of phagocyte function

Congeital Defects of Phagocyte Number

 
 
 
 
Congenital defects of phagocyte number
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Syndrome associated
 
 
 
No syndrome associated
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Shwachman-Diamond syndrome
 
 
 
 
Elastase deficiency (SCN1)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
G6PC3 deficiency (SCN4)
 
 
 
 
HAX1 deficiency (Kostmann Disease) (SCN3)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Glycogen storage disease type 1b
 
 
 
 
GFI 1 deficiency (SCN2)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cohen syndrome
 
 
 
 
X-linked neutropenia/myelodysplasia WAS GOF
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Barth Syndrome
 
 
 
 
G-CSF receptor deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Clericuzio syndrome (poikiloderma with neutropenia)
 
 
 
 
Neutropenia with combined immune deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
VPS45 deficiency(SCN5)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
P14/LAMTOR2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
JAGN1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
methylglutacoic aciduria
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SMARCD2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
WDR1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
HYOU1 deficiency
 
 
 
 

Congenital defects of phagocyte function

 
 
 
 
 
Congenital defects of phagocyte function
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Syndrome associated
 
 
 
 
 
No Syndrome associated;DHR assay(or NBT test)?
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cystic Fibrosis
 
 
Normal
 
 
Abnormal
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Papillion-Lefèvre
 
 
 
 
GATA2 def (MonoMac syndrome
 
 
 
CGD
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Localized juvenile periodontitis
 
 
 
 
Specific granule deficiency
 
 
 
Rac 2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
B-Actin
 
 
 
 
Pulmonary alveolar proteinosis
 
 
 
G6PD def Class 1
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Leukocyte adhesion deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 


Shwachman-Diamond Syndrome

For more information on Shwachman-Diamond syndrome, click here.

G6PC3 deficiency

Glycogen storage disease type 1b

For more information on Glycogen storage disease type 1b, click here.

Cohen Syndrome

  • Autosomal recessive (AR) transmission.[8]
  • It is caused by homozygous or compound heterozygous mutations in the COH1 gene on chromosome 8.
  • Patients present with non-progressive psychomotor retardation, motor clumsiness, microcephaly, high-arched eyelids, short philtrum, thick hair, low hairline, hypotonia, hyperextensibility of the joints, retinochoroidal dystrophy, myopia, and granulocytopenia.

For more information on Cohen Syndrome, click here.

Barth Syndrome

For more information on Barth Syndrome, click here.

Clericuzio syndrome (poikiloderma with neutropenia)

  • Autosomal recessive (AR) transmission.[10]
  • It is caused by homozygous or compound heterozygous mutation in the USB1 gene on chromosome 16.
  • Patients present with a gradual, centripetally spreading, papular erythematous rash on the limbs during the first year of life. Neutropenia may also be present.

VPS45 deficiency (SCN5)

P14/LAMTOR2 deficiency

JAGN1 deficiency

3-Methylglutaconic aciduria

For more information on 3-Methylglutaconic aciduria, click here.

SMARCD2 deficiency

WDR1 deficiency

HYOU1 deficiency

Elastase deficiency (SCN1)

HAX1 deficiency (Kostmann Disease) (SCN3)

GFI 1 deficiency

X-linked neutropenia/myelodysplasia WAS GOF

G-CSF receptor deficiency

[25]

Neutropenia with combined immune deficiency

Cystic fibrosis

For more information about cystic fibrosis, click here.

Papillion-Lefèvre

Localized juvenile periodontitis

  • It is cause by a mutation in the FPR1 gene.

B-actin

  • It is cause by a mutation in the ACTB gene.
  • Patients usually develop mental retardation.

Leukocyte adhesion deficiency

  • Autosomal recessive (AR) transmission.
  • It results from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule, which results in poor neutrophil chemotaxis and phagocytosis.
  • Patients develop recurrent infections, delay in umbilical cord seperation, and impaired pus formation.[29]
  • The mainstay of treatment is HSCT and gene therapy.[30][31]

For more information about leukocyte adhesion deficiency, click here.

GATA2 def (MonoMac syndrome)

Specific granule deficiency

Pulmonary alveolar proteinosis

  • Autosomal recessive (AR) transmission.
  • It is caused by homozygous mutation in the CSF2RB gene on chromosome 22.
  • It is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages causing respiratory failure.[36]

For more information about Pulmonary alveolar proteinosis, click here.

Chronic granulomatous disease (CGD)

Rac 2 deficiency

Glucose-6-phosphate dehydrogenase deficiency (G6PD) Class 1

References

  1. ↑ H. Ginzberg, J. Shin, L. Ellis, S. Goobie, J. Morrison, M. Corey, P. R. Durie & J. M. Rommens (2000). "Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance". American journal of human genetics. 66 (4): 1413–1416. doi:10.1086/302856. PMID 10739765. Unknown parameter |month= ignored (help)
  2. ↑ Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM (April 2000). "Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance". Am. J. Hum. Genet. 66 (4): 1413–6. doi:10.1086/302856. PMC 1288206. PMID 10739765.
  3. ↑ Yigal Dror & Melvin H. Freedman (2002). "Shwachman-diamond syndrome". British journal of haematology. 118 (3): 701–713. PMID 12181037. Unknown parameter |month= ignored (help)
  4. ↑ N. B. Genieser, E. R. Halac, M. A. Greco & H. M. Richards (1982). "Shwachman-Bodian syndrome". Journal of computer assisted tomography. 6 (6): 1191–1192. PMID 7174939. Unknown parameter |month= ignored (help)
  5. ↑ Kaan Boztug, Giridharan Appaswamy, Angel Ashikov, Alejandro A. Schaffer, Ulrich Salzer, Jana Diestelhorst, Manuela Germeshausen, Gudrun Brandes, Jacqueline Lee-Gossler, Fatih Noyan, Anna-Katherina Gatzke, Milen Minkov, Johann Greil, Christian Kratz, Theoni Petropoulou, Isabelle Pellier, Christine Bellanne-Chantelot, Nima Rezaei, Kirsten Monkemoller, Noha Irani-Hakimeh, Hans Bakker, Rita Gerardy-Schahn, Cornelia Zeidler, Bodo Grimbacher, Karl Welte & Christoph Klein (2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England journal of medicine. 360 (1): 32–43. doi:10.1056/NEJMoa0805051. PMID 19118303. Unknown parameter |month= ignored (help)
  6. ↑ Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K (July 1998). "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11". Biochem. Biophys. Res. Commun. 248 (2): 426–31. doi:10.1006/bbrc.1998.8985. PMID 9675154.
  7. ↑ T. Kuzuya, A. Matsuda, S. Yoshida, K. Narisawa, K. Tada, T. Saito & M. Matsushita (1983). "An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies". The New England journal of medicine. 308 (10): 566–569. doi:10.1056/NEJM198303103081004. PMID 6298622. Unknown parameter |month= ignored (help)
  8. ↑ S. Kivitie-Kallio & R. Norio (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". American journal of medical genetics. 102 (2): 125–135. PMID 11477603. Unknown parameter |month= ignored (help)
  9. ↑ P. G. Barth, H. R. Scholte, J. A. Berden, J. M. Van der Klei-Van Moorsel, I. E. Luyt-Houwen, E. T. Van 't Veer-Korthof, J. J. Van der Harten & M. A. Sobotka-Plojhar (1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". Journal of the neurological sciences. 62 (1–3): 327–355. PMID 6142097. Unknown parameter |month= ignored (help)
  10. ↑ R. P. Erickson (1999). "Southwestern Athabaskan (Navajo and Apache) genetic diseases". Genetics in medicine : official journal of the American College of Medical Genetics. 1 (4): 151–157. doi:10.1097/00125817-199905000-00007. PMID 11258351. Unknown parameter |month= ignored (help)
  11. ↑ Thierry Vilboux, Atar Lev, May Christine V. Malicdan, Amos J. Simon, Paivi Jarvinen, Tomas Racek, Jacek Puchalka, Raman Sood, Blake Carrington, Kevin Bishop, James Mullikin, Marjan Huizing, Ben Zion Garty, Eran Eyal, Baruch Wolach, Ronit Gavrieli, Amos Toren, Michalle Soudack, Osama M. Atawneh, Tatiana Babushkin, Ginette Schiby, Andrew Cullinane, Camila Avivi, Sylvie Polak-Charcon, Iris Barshack, Ninette Amariglio, Gideon Rechavi, Jutte van der Werff ten Bosch, Yair Anikster, Christoph Klein, William A. Gahl & Raz Somech (2013). "A congenital neutrophil defect syndrome associated with mutations in VPS45". The New England journal of medicine. 369 (1): 54–65. doi:10.1056/NEJMoa1301296. PMID 23738510. Unknown parameter |month= ignored (help)
  12. ↑ Georg Bohn, Anna Allroth, Gudrun Brandes, Jens Thiel, Erik Glocker, Alejandro A. Schaffer, Chozhavendan Rathinam, Nicole Taub, David Teis, Cornelia Zeidler, Ricardo A. Dewey, Robert Geffers, Jan Buer, Lukas A. Huber, Karl Welte, Bodo Grimbacher & Christoph Klein (2007). "A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14". Nature medicine. 13 (1): 38–45. doi:10.1038/nm1528. PMID 17195838. Unknown parameter |month= ignored (help)
  13. ↑ Kaan Boztug, Paivi M. Jarvinen, Elisabeth Salzer, Tomas Racek, Sebastian Monch, Wojciech Garncarz, E. Michael Gertz, Alejandro A. Schaffer, Aristotelis Antonopoulos, Stuart M. Haslam, Lena Schieck, Jacek Puchalka, Jana Diestelhorst, Giridharan Appaswamy, Brigitte Lescoeur, Roberto Giambruno, Johannes W. Bigenzahn, Ulrich Elling, Dietmar Pfeifer, Cecilia Dominguez Conde, Michael H. Albert, Karl Welte, Gudrun Brandes, Roya Sherkat, Jutte van der Werff Ten Bosch, Nima Rezaei, Amos Etzioni, Christine Bellanne-Chantelot, Giulio Superti-Furga, Josef M. Penninger, Keiryn L. Bennett, Julia von Blume, Anne Dell, Jean Donadieu & Christoph Klein (2014). "JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia". Nature genetics. 46 (9): 1021–1027. doi:10.1038/ng.3069. PMID 25129144. Unknown parameter |month= ignored (help)
  14. ↑ Saskia B. Wortmann, Szymon Zietkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Soren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas Lucke, Katrin Ounap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frederic M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A. A. P. Willemsen, Arjan P. M. de Brouwer, Holger Prokisch, Nicholas Katsanis & Ron A. Wevers (2015). "CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder". American journal of human genetics. 96 (2): 245–257. doi:10.1016/j.ajhg.2014.12.013. PMID 25597510. Unknown parameter |month= ignored (help)
  15. ↑ Maximilian Witzel, Daniel Petersheim, Yanxin Fan, Ehsan Bahrami, Tomas Racek, Meino Rohlfs, Jacek Puchalka, Christian Mertes, Julien Gagneur, Christoph Ziegenhain, Wolfgang Enard, Asbjorg Stray-Pedersen, Peter D. Arkwright, Miguel R. Abboud, Vahid Pazhakh, Graham J. Lieschke, Peter M. Krawitz, Maik Dahlhoff, Marlon R. Schneider, Eckhard Wolf, Hans-Peter Horny, Heinrich Schmidt, Alejandro A. Schaffer & Christoph Klein (2017). "Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes". Nature genetics. 49 (5): 742–752. doi:10.1038/ng.3833. PMID 28369036. Unknown parameter |month= ignored (help)
  16. ↑ H. Z. Ring, V. Vameghi-Meyers, W. Wang, G. R. Crabtree & U. Francke (1998). "Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome". Genomics. 51 (1): 140–143. doi:10.1006/geno.1998.5343. PMID 9693044. Unknown parameter |month= ignored (help)
  17. ↑ H. J. Adler, R. S. Winnicki, T. W. Gong & M. I. Lomax (1999). "A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein". Genomics. 56 (1): 59–69. doi:10.1006/geno.1998.5672. PMID 10036186. Unknown parameter |month= ignored (help)
  18. ↑ Douglas B. Kuhns, Danielle L. Fink, Uimook Choi, Colin Sweeney, Karen Lau, Debra Long Priel, Dara Riva, Laura Mendez, Gulbu Uzel, Alexandra F. Freeman, Kenneth N. Olivier, Victoria L. Anderson, Robin Currens, Vanessa Mackley, Allison Kang, Mehdi Al-Adeli, Emily Mace, Jordan S. Orange, Elizabeth Kang, Stephen J. Lockett, De Chen, Peter J. Steinbach, Amy P. Hsu, Kol A. Zarember, Harry L. Malech, John I. Gallin & Steven M. Holland (2016). "Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency". Blood. 128 (17): 2135–2143. doi:10.1182/blood-2016-03-706028. PMID 27557945. Unknown parameter |month= ignored (help)
  19. ↑ Julia Skokowa, Manuela Germeshausen, Cornelia Zeidler & Karl Welte (2007). "Severe congenital neutropenia: inheritance and pathophysiology". Current opinion in hematology. 14 (1): 22–28. PMID 17133096. Unknown parameter |month= ignored (help)
  20. ↑ H. W. Peng, C. F. Chou & D. C. Liang (2000). "Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome". British journal of haematology. 110 (2): 438–440. PMID 10971405. Unknown parameter |month= ignored (help)
  21. ↑ S. E. Palmer, K. Stephens & D. C. Dale (1996). "Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis". American journal of medical genetics. 66 (4): 413–422. doi:10.1002/(SICI)1096-8628(19961230)66:4<413::AID-AJMG5>3.0.CO;2-L. PMID 8989458. Unknown parameter |month= ignored (help)
  22. ↑ Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte & Christoph Klein (2008). "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations". Blood. 111 (10): 4954–4957. doi:10.1182/blood-2007-11-120667. PMID 18337561. Unknown parameter |month= ignored (help)
  23. ↑ Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte & Christoph Klein (2008). "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations". Blood. 111 (10): 4954–4957. doi:10.1182/blood-2007-11-120667. PMID 18337561. Unknown parameter |month= ignored (help)
  24. ↑ K. Devriendt, A. S. Kim, G. Mathijs, S. G. Frints, M. Schwartz, J. J. Van Den Oord, G. E. Verhoef, M. A. Boogaerts, J. P. Fryns, D. You, M. K. Rosen & P. Vandenberghe (2001). "Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia". Nature genetics. 27 (3): 313–317. doi:10.1038/85886. PMID 11242115. Unknown parameter |month= ignored (help)
  25. ↑ Alexa Triot, Paivi M. Jarvinen, Juan I. Arostegui, Dhaarini Murugan, Naschla Kohistani, Jose Luis Dapena Diaz, Tomas Racek, Jacek Puchalka, E. Michael Gertz, Alejandro A. Schaffer, Daniel Kotlarz, Dietmar Pfeifer, Cristina Diaz de Heredia Rubio, Mehmet Akif Ozdemir, Turkan Patiroglu, Musa Karakukcu, Jose Sanchez de Toledo Codina, Jordi Yague, Ivo P. Touw, Ekrem Unal & Christoph Klein (2014). "Inherited biallelic CSF3R mutations in severe congenital neutropenia". Blood. 123 (24): 3811–3817. doi:10.1182/blood-2013-11-535419. PMID 24753537. Unknown parameter |month= ignored (help)
  26. ↑ T. Nagase, R. Kikuno, K. I. Ishikawa, M. Hirosawa & O. Ohara (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA research : an international journal for rapid publication of reports on genes and genomes. 7 (1): 65–73. PMID 10718198. Unknown parameter |month= ignored (help)
  27. ↑ C. Lefevre, C. Blanchet-Bardon, F. Jobard, B. Bouadjar, J. F. Stalder, S. Cure, A. Hoffmann, J. F. Prud'Homme & J. Fischer (2001). "Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome". The Journal of investigative dermatology. 117 (6): 1657–1661. doi:10.1046/j.0022-202x.2001.01595.x. PMID 11886537. Unknown parameter |month= ignored (help)
  28. ↑ V. Nazzaro, C. Blanchet-Bardon, C. Mimoz, J. Revuz & A. Puissant (1988). "Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin". Archives of dermatology. 124 (4): 533–539. PMID 2965550. Unknown parameter |month= ignored (help)
  29. ↑ A. R. Hayward, B. A. Harvey, J. Leonard, M. C. Greenwood, C. B. Wood & J. F. Soothill (1979). "Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility". Lancet (London, England). 1 (8126): 1099–1101. PMID 86829. Unknown parameter |month= ignored (help)
  30. ↑ A. Fischer, C. Griscelli, W. Friedrich, B. Kubanek, R. Levinsky, G. Morgan, J. Vossen, G. Wagemaker & P. Landais (1986). "Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985". Lancet (London, England). 2 (8515): 1080–1084. PMID 2877234. Unknown parameter |month= ignored (help)
  31. ↑ J. M. Wilson, A. J. Ping, J. C. Krauss, L. Mayo-Bond, C. E. Rogers, D. C. Anderson & R. F. Todd (1990). "Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer". Science (New York, N.Y.). 248 (4961): 1413–1416. PMID 1972597. Unknown parameter |month= ignored (help)
  32. ↑ Donald C. Vinh, Smita Y. Patel, Gulbu Uzel, Victoria L. Anderson, Alexandra F. Freeman, Kenneth N. Olivier, Christine Spalding, Stephen Hughes, Stefania Pittaluga, Mark Raffeld, Lynn R. Sorbara, Houda Z. Elloumi, Douglas B. Kuhns, Maria L. Turner, Edward W. Cowen, Danielle Fink, Debra Long-Priel, Amy P. Hsu, Li Ding, Michelle L. Paulson, Adeline R. Whitney, Elizabeth P. Sampaio, David M. Frucht, Frank R. DeLeo & Steven M. Holland (2010). "Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia". Blood. 115 (8): 1519–1529. doi:10.1182/blood-2009-03-208629. PMID 20040766. Unknown parameter |month= ignored (help)
  33. ↑ Venetia Bigley, Muzlifah Haniffa, Sergei Doulatov, Xiao-Nong Wang, Rachel Dickinson, Naomi McGovern, Laura Jardine, Sarah Pagan, Ian Dimmick, Ignatius Chua, Jonathan Wallis, Jim Lordan, Cliff Morgan, Dinakantha S. Kumararatne, Rainer Doffinger, Mirjam van der Burg, Jacques van Dongen, Andrew Cant, John E. Dick, Sophie Hambleton & Matthew Collin (2011). "The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency". The Journal of experimental medicine. 208 (2): 227–234. doi:10.1084/jem.20101459. PMID 21242295. Unknown parameter |month= ignored (help)
  34. ↑ Jennifer Cuellar-Rodriguez, Juan Gea-Banacloche, Alexandra F. Freeman, Amy P. Hsu, Christa S. Zerbe, Katherine R. Calvo, Jennifer Wilder, Roger Kurlander, Kenneth N. Olivier, Steven M. Holland & Dennis D. Hickstein (2011). "Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency". Blood. 118 (13): 3715–3720. doi:10.1182/blood-2011-06-365049. PMID 21816832. Unknown parameter |month= ignored (help)
  35. ↑ A. F. Gombart, M. Shiohara, S. H. Kwok, K. Agematsu, A. Komiyama & H. P. Koeffler (2001). "Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon". Blood. 97 (9): 2561–2567. PMID 11313242. Unknown parameter |month= ignored (help)
  36. ↑ Sara R. Greenhill & Darrell N. Kotton (2009). "Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction". Chest. 136 (2): 571–577. doi:10.1378/chest.08-2943. PMID 19666756. Unknown parameter |month= ignored (help)
  37. ↑ R. B. Jr Johnston (2001). "Clinical aspects of chronic granulomatous disease". Current opinion in hematology. 8 (1): 17–22. PMID 11138621. Unknown parameter |month= ignored (help)
  38. ↑ D. R. Ambruso, C. Knall, A. N. Abell, J. Panepinto, A. Kurkchubasche, G. Thurman, C. Gonzalez-Aller, A. Hiester, M. deBoer, R. J. Harbeck, R. Oyer, G. L. Johnson & D. Roos (2000). "Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation". Proceedings of the National Academy of Sciences of the United States of America. 97 (9): 4654–4659. doi:10.1073/pnas.080074897. PMID 10758162. Unknown parameter |month= ignored (help)
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