Primary immunodeficiency - Homo sapiens (human)
Primary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells such as phagocytes and natural killer (NK) cells. These disorders of the immune system cause increased susceptibility to infection, autoimmune disease, and malignancy. Most of PIs are due to genetic defects that affect cell maturation or function at different levels during hematopoiesis. Disruption of the cellular immunity is observed in patients with defects in T cells or both T and B cells. These cellular immunodeficiencies comprise 20% of all PIs. Disorders of humoral immunity affect B-cell differentiation and antibody production. They account for 70% of all PIs.
Human Diseases; Immune disease
Hyper IgM syndromes, autosomal recessive type
Common variable immunodeficiency
T-B+Severe combined immunodeficiency
T-B-Severe combined immunodeficiency
Ectodermal dysplasia associated immunodeficiency
Other well-defined immunodeficiency syndromes
Bare lymphocyte syndrome type1
Bare lymphocyte syndrome type2
Autoimmune polyendocrinopathy syndrome type 1
Adenosine deaminase deficiency
Homo sapiens (human) [GN:
ADA; adenosine deaminase [KO:
IL7R; interleukin 7 receptor [KO:
IL2RG; interleukin 2 receptor subunit gamma [KO:
JAK3; Janus kinase 3 [KO:
DCLRE1C; DNA cross-link repair 1C [KO:
RAG1; recombination activating 1 [KO:
RAG2; recombination activating 2 [KO:
CD3D; CD3d molecule [KO:
CD3E; CD3e molecule [KO:
PTPRC; protein tyrosine phosphatase receptor type C [KO:
CD4; CD4 molecule [KO:
CD8A; CD8a molecule [KO:
CD8B; CD8b molecule [KO:
CD8B2; CD8b2 molecule [KO:
AIRE; autoimmune regulator [KO:
TAP1; transporter 1, ATP binding cassette subfamily B member [KO:
TAP2; transporter 2, ATP binding cassette subfamily B member [KO:
LCK; LCK proto-oncogene, Src family tyrosine kinase [KO:
ZAP70; zeta chain of T cell receptor associated protein kinase 70 [KO:
RFX5; regulatory factor X5 [KO:
RFXAP; regulatory factor X associated protein [KO:
RFXANK; regulatory factor X associated ankyrin containing protein [KO:
CIITA; class II major histocompatibility complex transactivator [KO:
ORAI1; ORAI calcium release-activated calcium modulator 1 [KO:
IGH; immunoglobulin heavy variable 4-38-2-like [KO:
IGLL1; immunoglobulin lambda like polypeptide 1 [KO:
CD79A; CD79a molecule [KO:
BLNK; B cell linker [KO:
BTK; Bruton tyrosine kinase [KO:
IKBKG; inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [KO:
CD40; CD40 molecule [KO:
CD40LG; CD40 ligand [KO:
UNG; uracil DNA glycosylase [KO:
AICDA; activation induced cytidine deaminase [KO:
ICOS; inducible T cell costimulator [KO:
TNFRSF13C; TNF receptor superfamily member 13C [KO:
CD19; CD19 molecule [KO:
TNFRSF13B; TNF receptor superfamily member 13B [KO:
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Hematopoietic cell lineage
T cell receptor signaling pathway
B cell receptor signaling pathway
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