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==
==IL7a==
*Autosomal recessive transmission(AR)
*It is caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene on chromosome 5p13.<ref>{{Cite journal
| author = [[A. Puel]], [[S. F. Ziegler]], [[R. H. Buckley]] & [[W. J. Leonard]]
| title = Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
| journal = [[Nature genetics]]
| volume = 20
| issue = 4
| pages = 394–397
| year = 1998
| month = December
| doi = 10.1038/3877
| pmid = 9843216
}}</ref>
*Similar presemtation to X-linked SCID<ref>{{Cite journal
| author = [[C. M. Roifman]], [[J. Zhang]], [[D. Chitayat]] & [[N. Sharfe]]
| title = A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency
| journal = [[Blood]]
| volume = 96
| issue = 8
| pages = 2803–2807
| year = 2000
| month = October
| pmid = 11023514
}}</ref>
 
==References==
==References==

Revision as of 20:30, 10 October 2018


Immunodeficiency Main Page

Home

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

 
 
 
 
 
 
 
 
 
Immunodeficiency affecting cellular and humoral immunity
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD19 NL: SCID T-ve B+ve
 
 
 
 
 
 
 
CD19 ↓: SCID T-ve B-ve
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SCID T-ve B+ve NK-ve
 
 
 
SCID T-ve B+ve NK+ve
 
SCID T-ve B-ve NK-ve
 
 
 
SCID T-ve B-ve NK+ve
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
yc deficiency
 
 
 
 
IL7Ra .
 
 
ADA def
 
Microcephaly present
 
 
Microcephaly absent
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
JAK-3 def
 
 
 
 
CD3D, CD3E, CD247
 
 
Reticular dysgenesis
 
 
 
DNA Ligase IV def
 
 
 
RAG1/2 def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD45 def
 
 
 
 
 
 
 
XLF def
 
 
 
DCLRE1C def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Coronin-1A def
 
 
 
 
 
 
 
DNA PKcs def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Winged helix def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

γc (IL-2Rγ) deficiency

  • X-linked transmission, presenting usually between ages of 3-6 months.
  • It is caused by a mutation in the gene encoding the gamma sub-unit of interleukin-2 receptor (IL2RG).
  • Characterized by susceptibility to repeated bacterial, viral and fungal infections, lack of delayed hypersensitivity and failure to thrive.[1]
  • HSCT is the mainstay of treatment.[2]

JAK-3 deficiency

  • Autosomal recessive(AR) transmission
  • It is caused by homozygous or compound heterozygous mutation in the Janus kinase-3 gene on chromosome 19p13.
  • Similar presentation to X-linked SCID.[3]
  • HSCT is the mainstay of treatment.[4]


IL7a

  • Autosomal recessive transmission(AR)
  • It is caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene on chromosome 5p13.[5]
  • Similar presemtation to X-linked SCID[6]

References

  1. ↑ W. H. HITZIG & H. WILLI (1961). "[Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")]". Schweizerische medizinische Wochenschrift. 91: 1625–1633. PMID 13907792. Unknown parameter |month= ignored (help)
  2. ↑ Fred S. Rosen (2002). "Successful gene therapy for severe combined immunodeficiency". The New England journal of medicine. 346 (16): 1241–1243. doi:10.1056/NEJM200204183461612. PMID 11961154. Unknown parameter |month= ignored (help)
  3. ↑ F. Candotti, S. A. Oakes, J. A. Johnston, S. Giliani, R. F. Schumacher, P. Mella, M. Fiorini, A. G. Ugazio, R. Badolato, L. D. Notarangelo, F. Bozzi, P. Macchi, D. Strina, P. Vezzoni, R. M. Blaese, J. J. O'Shea & A. Villa (1997). "Structural and functional basis for JAK3-deficient severe combined immunodeficiency". Blood. 90 (10): 3996–4003. PMID 9354668. Unknown parameter |month= ignored (help)
  4. ↑ Joseph L. Roberts, Andrea Lengi, Stephanie M. Brown, Min Chen, Yong-Jie Zhou, John J. O'Shea & Rebecca H. Buckley (2004). "Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation". Blood. 103 (6): 2009–2018. doi:10.1182/blood-2003-06-2104. PMID 14615376. Unknown parameter |month= ignored (help)
  5. ↑ A. Puel, S. F. Ziegler, R. H. Buckley & W. J. Leonard (1998). "Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency". Nature genetics. 20 (4): 394–397. doi:10.1038/3877. PMID 9843216. Unknown parameter |month= ignored (help)
  6. ↑ C. M. Roifman, J. Zhang, D. Chitayat & N. Sharfe (2000). "A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency". Blood. 96 (8): 2803–2807. PMID 11023514. Unknown parameter |month= ignored (help)
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