| Entry |
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| Name |
Primary immunodeficiency - Homo sapiens (human)
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| Description |
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.
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| Class |
Human Diseases; Immune diseases
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| Pathway map |
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| Disease |
| Agammaglobulinemias | | Hyper IgM syndromes, autosomal recessive type | | Common variable immunodeficiency (CVID) | | T-B+Severe combined immunodeficiencies (SCIDs) | | T-B-Severe combined immunodeficiencies (SCIDs) | | Combined immunodeficiencies (CIDs) | | Ectodermal dysplasia associated immunodeficiency (EDA-ID) | | Other well-defined immunodeficiency syndromes | | Bare lymphocyte syndrome (BLS) type1 | | Bare lymphocyte syndrome (BLS) type2 |
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| Drug |
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| Organism |
Homo sapiens (human) [GN: hsa]
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| Gene |
| | | IL7R; interleukin 7 receptor [KO: K05072] | | IL2RG; interleukin 2 receptor, gamma [KO: K05070] | | DCLRE1C; DNA cross-link repair 1C [KO: K10887] [EC:3.1.-.-] | | | | RAG2; recombination activating gene 2 [KO: K10988] | | CD3D; CD3d molecule, delta (CD3-TCR complex) [KO: K06450] | | CD3E; CD3e molecule, epsilon (CD3-TCR complex) [KO: K06451] | | PTPRC; protein tyrosine phosphatase, receptor type, C [KO: K06478] [EC: 3.1.3.48] | | | | CD8A; CD8a molecule [KO: K06458] | | CD8B; CD8b molecule [KO: K06459] | | AIRE; autoimmune regulator [KO: K10603] | | TAP1; transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) [KO: K05653] | | TAP2; transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) [KO: K05654] | | LCK; lymphocyte-specific protein tyrosine kinase [KO: K05856] [EC: 2.7.10.2] | | ZAP70; zeta-chain (TCR) associated protein kinase 70kDa [KO: K07360] [EC: 2.7.10.2] | | RFX5; regulatory factor X, 5 (influences HLA class II expression) [KO: K08061] | | RFXAP; regulatory factor X-associated protein [KO: K08063] | | RFXANK; regulatory factor X-associated ankyrin-containing protein [KO: K08062] | | CIITA; class II, major histocompatibility complex, transactivator [KO: K08060] | | ORAI1; ORAI calcium release-activated calcium modulator 1 [KO: K16056] | | CD79A; CD79a molecule, immunoglobulin-associated alpha [KO: K06506] | | BLNK; B-cell linker [KO: K07371] | | BTK; Bruton agammaglobulinemia tyrosine kinase [KO: K07370] [EC: 2.7.10.2] | | IKBKG; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma [KO: K07210] | | CD40; CD40 molecule, TNF receptor superfamily member 5 [KO: K03160] | | CD40LG; CD40 ligand [KO: K03161] | | | | AICDA; activation-induced cytidine deaminase [KO: K10989] [EC: 3.5.4.5] | | ICOS; inducible T-cell co-stimulator [KO: K06713] | | TNFRSF13C; tumor necrosis factor receptor superfamily, member 13C [KO: K05151] | | CD19; CD19 molecule [KO: K06465] | | TNFRSF13B; tumor necrosis factor receptor superfamily, member 13B [KO: K05150] | | IGLL1; immunoglobulin lambda-like polypeptide 1 [KO: K06554] | | |
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| Reference |
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| Authors |
Cunningham-Rundles C, Ponda PP. |
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| Title |
Molecular defects in T- and B-cell primary immunodeficiency diseases. |
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| Journal |
Nat Rev Immunol 5:880-92 (2005) |
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| Reference |
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| Authors |
Ballow M. |
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| Title |
Primary immunodeficiency disorders: antibody deficiency. |
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| Journal |
J Allergy Clin Immunol 109:581-91 (2002) |
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| Reference |
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| Authors |
Marodi L, Notarangelo LD. |
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| Title |
Immunological and genetic bases of new primary immunodeficiencies. |
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| Journal |
Nat Rev Immunol 7:851-61 (2007) |
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| Reference |
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| Authors |
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J. |
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| Title |
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. |
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| Journal |
J Allergy Clin Immunol 120:776-94 (2007) |
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| Reference |
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| Authors |
Fischer A. |
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| Title |
Human primary immunodeficiency diseases. |
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| Journal |
Immunity 27:835-45 (2007) |
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| Reference |
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| Authors |
Fischer A. |
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| Title |
Human primary immunodeficiency diseases: a perspective. |
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| Journal |
Nat Immunol 5:23-30 (2004) |
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| Reference |
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| Authors |
Buckley RH. |
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| Title |
Primary immunodeficiency diseases due to defects in lymphocytes. |
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| Journal |
N Engl J Med 343:1313-24 (2000) |
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| Reference |
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| Authors |
Fischer A, Le Deist F, Hacein-Bey-Abina S, Andre-Schmutz I, Basile Gde S, de Villartay JP, Cavazzana-Calvo M. |
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| Title |
Severe combined immunodeficiency. A model disease for molecular immunology and therapy. |
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| Journal |
Immunol Rev 203:98-109 (2005) |
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| Reference |
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| Authors |
de Villartay JP, Fischer A, Durandy A. |
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| Title |
The mechanisms of immune diversification and their disorders. |
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| Journal |
Nat Rev Immunol 3:962-72 (2003) |
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| KO pathway |
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