KEGG   PATHWAY: hsa05340
Entry
hsa05340                    Pathway                                

Name
Primary immunodeficiency - Homo sapiens (human)
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.
Class
Human Diseases; Immune disease
Pathway map
hsa05340  Primary immunodeficiency
hsa05340

Disease
H00085  Agammaglobulinemias
H00086  Hyper IgM syndromes, autosomal recessive type
H00088  Common variable immunodeficiency
H00091  T-B+Severe combined immunodeficiency
H00092  T-B-Severe combined immunodeficiency
H00093  Combined immunodeficiency
H00095  Ectodermal dysplasia associated immunodeficiency
H00107  Other well-defined immunodeficiency syndromes
H00984  Bare lymphocyte syndrome type1
H00985  Bare lymphocyte syndrome type2
H01972  Autoimmune polyendocrinopathy syndrome type 1
H02309  Adenosine deaminase deficiency
Drug
D03420  Cedelizumab (USAN/INN)
Organism
Homo sapiens (human) [GN:hsa]
Gene
100  ADA; adenosine deaminase [KO:K01488] [EC:3.5.4.4]
3575  IL7R; interleukin 7 receptor [KO:K05072]
3561  IL2RG; interleukin 2 receptor subunit gamma [KO:K05070]
3718  JAK3; Janus kinase 3 [KO:K11218] [EC:2.7.10.2]
64421  DCLRE1C; DNA cross-link repair 1C [KO:K10887] [EC:3.1.-.-]
5896  RAG1; recombination activating 1 [KO:K10628] [EC:2.3.2.27]
5897  RAG2; recombination activating 2 [KO:K10988]
915  CD3D; CD3d molecule [KO:K06450]
916  CD3E; CD3e molecule [KO:K06451]
5788  PTPRC; protein tyrosine phosphatase receptor type C [KO:K06478] [EC:3.1.3.48]
920  CD4; CD4 molecule [KO:K06454]
925  CD8A; CD8a molecule [KO:K06458]
926  CD8B; CD8b molecule [KO:K06459]
927  CD8B2; CD8b2 molecule [KO:K06459]
326  AIRE; autoimmune regulator [KO:K10603]
6890  TAP1; transporter 1, ATP binding cassette subfamily B member [KO:K05653]
6891  TAP2; transporter 2, ATP binding cassette subfamily B member [KO:K05654]
3932  LCK; LCK proto-oncogene, Src family tyrosine kinase [KO:K05856] [EC:2.7.10.2]
7535  ZAP70; zeta chain of T cell receptor associated protein kinase 70 [KO:K07360] [EC:2.7.10.2]
5993  RFX5; regulatory factor X5 [KO:K08061]
5994  RFXAP; regulatory factor X associated protein [KO:K08063]
8625  RFXANK; regulatory factor X associated ankyrin containing protein [KO:K08062]
4261  CIITA; class II major histocompatibility complex transactivator [KO:K08060] [EC:2.7.11.1]
84876  ORAI1; ORAI calcium release-activated calcium modulator 1 [KO:K16056]
102723407  IGH; immunoglobulin heavy variable 4-38-2-like [KO:K06856]
3543  IGLL1; immunoglobulin lambda like polypeptide 1 [KO:K06554]
973  CD79A; CD79a molecule [KO:K06506]
29760  BLNK; B cell linker [KO:K07371]
695  BTK; Bruton tyrosine kinase [KO:K07370] [EC:2.7.10.2]
8517  IKBKG; inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [KO:K07210]
958  CD40; CD40 molecule [KO:K03160]
959  CD40LG; CD40 ligand [KO:K03161]
7374  UNG; uracil DNA glycosylase [KO:K03648] [EC:3.2.2.27]
57379  AICDA; activation induced cytidine deaminase [KO:K10989] [EC:3.5.4.38]
29851  ICOS; inducible T cell costimulator [KO:K06713]
115650  TNFRSF13C; TNF receptor superfamily member 13C [KO:K05151]
930  CD19; CD19 molecule [KO:K06465]
23495  TNFRSF13B; TNF receptor superfamily member 13B [KO:K05150]
Reference
  Authors
Cunningham-Rundles C, Ponda PP.
  Title
Molecular defects in T- and B-cell primary immunodeficiency diseases.
  Journal
Nat Rev Immunol 5:880-92 (2005)
DOI:10.1038/nri1713
Reference
  Authors
Ballow M.
  Title
Primary immunodeficiency disorders: antibody deficiency.
  Journal
J Allergy Clin Immunol 109:581-91 (2002)
DOI:10.1067/mai.2002.122466
Reference
  Authors
Marodi L, Notarangelo LD.
  Title
Immunological and genetic bases of new primary immunodeficiencies.
  Journal
Nat Rev Immunol 7:851-61 (2007)
DOI:10.1038/nri2195
Reference
  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.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053
Reference
  Authors
Fischer A.
  Title
Human primary immunodeficiency diseases.
  Journal
Immunity 27:835-45 (2007)
DOI:10.1016/j.immuni.2007.11.012
Reference
  Authors
Fischer A.
  Title
Human primary immunodeficiency diseases: a perspective.
  Journal
Nat Immunol 5:23-30 (2004)
DOI:10.1038/ni1023
Reference
  Authors
Buckley RH.
  Title
Primary immunodeficiency diseases due to defects in lymphocytes.
  Journal
N Engl J Med 343:1313-24 (2000)
DOI:10.1056/NEJM200011023431806
Reference
  Authors
Fischer A, Le Deist F, Hacein-Bey-Abina S, Andre-Schmutz I, Basile Gde S, de Villartay JP, Cavazzana-Calvo M.
  Title
Severe combined immunodeficiency. A model disease for molecular immunology and therapy.
  Journal
Immunol Rev 203:98-109 (2005)
DOI:10.1111/j.0105-2896.2005.00223.x
Reference
  Authors
de Villartay JP, Fischer A, Durandy A.
  Title
The mechanisms of immune diversification and their disorders.
  Journal
Nat Rev Immunol 3:962-72 (2003)
DOI:10.1038/nri1247
Related
pathway
hsa04640  Hematopoietic cell lineage
hsa04660  T cell receptor signaling pathway
hsa04662  B cell receptor signaling pathway
KO pathway
ko05340   
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