Combined immunodeficiency

Combined immunodeficiency
ICD-10	D81
ICD-9	279.2

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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:

Classification

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

CHARGE Syndrome

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