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===Immunodeficiency Affecting Cellular and Humoral Immunity===
===Immunodeficiency Affecting Cellular and Humoral Immunity===
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{{Family tree | | | | | B01 | | | | | | | | B02 | | | | | | | | | |B01=CD19 NL: SCID T-ve B+ve|B02=CD19 ↓: SCID T-ve B-ve}}
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{{Family tree | | C01 | | | | C02 | | C03 | | | | C04 | | | | | | |C01=SCID T-ve B+ve NK-ve|C02=SCID T-ve B+ve NK+ve|C03=SCID T-ve B-ve NK-ve|C04=SCID T-ve B-ve NK+ve}}
{{Family tree | |!| | | | | |!| | | |!| | | | | |,|^|-|-|-|.| | | |}}
{{Family tree | |)| D01 | | |)| E01 |)| F01 | | G01 | | | G02 | | |D01=yc deficiency|E01=IL7Ra .|F01=ADA def|G01=Microcephaly present|G02=Microcephaly absent}}
{{Family tree | |!| | | | | |!| | | |!| | | | |!| | | | |!| | | | |}}
{{Family tree | |`| D02 | | |)| E02 |`| F02 | |)| H01 | |)| H05 | |D02=JAK-3 def|E02=CD3D, CD3E, CD247|F02=Reticular dysgenesis|H01= DNA Ligase IV def|H05=RAG1/2 def}}
{{Family tree | | | | | | | |!| | | | | | | | |!| | | | |!| | | | |}}
{{Family tree | | | | | | | |)| E03 | | | | | |)| H02 | |`| H06 | |E03=CD45 def|H02=XLF def|H06=DCLRE1C def}}
{{Family tree | | | | | | | |!| | | | | | | | |!| | | | | | | | | |}}
{{Family tree | | | | | | | |)| E04 | | | | | |`| H03 | | | | | | |E04=Coronin-1A def|H03=DNA PKcs def}}
{{Family tree | | | | | | | |!| | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | |`| E05 | | | | | | | | | | | | | | | |E05=Winged helix def}}
{{Family tree/end}}


===Combined Immunodeficiency===
===Combined Immunodeficiency===

Revision as of 20:04, 17 October 2018

Immunodeficiency
ICD-10 D84.9
ICD-9 279.3
DiseasesDB 21506
MeSH D007153

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: Zahir Ali Shaikh, MD[2], Ali Akram, M.B.B.S.[3], Anmol Pitliya, M.B.B.S. M.D.[4]


Synonyms and keywords: Immune deficiency; immunity suppression; immunological deficiency; immunosuppression

Overview

Classification

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Immunodeficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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-imflammatory disorders
 
Complement deficiencies
 
Phenocopies of primary immunodeficiency (PID)
 

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Combined Immunodeficiency Diseases with associated or syndromic features
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Congenital thromocytopenia
 
 
 
 
DNA Repair Defects
 
 
 
Immuno-osseous dysplasias
 
 
 
Thymic Defects with additional congenital anomalies
 
 
Hyper-IgE syndromes(HIES)
 
 
Dyskeratosis congenita (DKC)
 
 
Defects of Vitamin B12 and Folate metabolism
 
 
Anhidrotic Ectodermodysplasia with ID
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Wiskott Aldrich Syndrome
 
 
 
 
 
Ataxia telangiectasia
 
 
 
 
Cartilage Hair Hypoplasia
 
 
 
 
DiDeorge Syndrome
 
 
 
Job Syndrome
 
 
 
Dyskeratosis congenita
 
 
 
Transcobalmin 2 deficiency
 
 
 
NEMO deficiency
 
 
 
Purine nucleoside phosphorylase deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
XL thrombocytopenia
 
 
 
 
 
Nijmegen breakage Syndrome
 
 
 
 
Schimke Syndrome
 
 
 
 
TBX1 deficiency
 
 
 
Comel Netherton Syndrome
 
 
 
COATS plus syndrome
 
 
 
Deficiency causing hereditary folate malabsorption
 
 
 
EDA-ID due to IKBA GOF mutation
 
 
 
ID with multiple intestinal atresias
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
WIP deficiency
 
 
 
 
 
Bloom syndrome
 
 
 
 
MYSM1 deficiency
 
 
 
 
Chromosome 10p13-p14 deletion Syndrome
 
 
 
PGM3 deficiency
 
 
 
SAMD9
 
 
 
Methylene-tetrahydrofolate-dehydrogenase 1 deficiency
 
 
 
 
 
 
 
 
Hepatic veno-occlusive disease with immunodeficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
ARPC1B deficiency
 
 
 
 
 
PMS2 deficiency
 
 
 
 
MOPD1 deficiency
 
 
 
 
{{{ F04 }}}
 
 
 
 
 
 
 
 
SAMD9L
 
 
 
 
 
 
 
 
 
 
 
 
 
Vici Syndrome
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Immunodeficiency with centromeric instability and facial anomalies(ICF1, ICF2, ICF3, ICF4)
 
 
 
 
EXTL3 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
HOIL1 deficiency, HOIP1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
MCM4 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Calcium Channel Defects(ORAI-1 deficiency, STIM1 deficiency)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
RNF168 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hennekam-lymphangiectasia-lymphedema syndrome
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
POLE1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
STAT5b deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
POLE2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Kabuki Syndrome
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
NSMCE3 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
ERCC6L2(Hebo deficiency)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Ligase 1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
GINS1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-imflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency (PID)

References

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