KEGG   PATHWAY: mcf05340
Entry
mcf05340                    Pathway                                

Name
Primary immunodeficiency - Macaca fascicularis (crab-eating macaque)
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
mcf05340  Primary immunodeficiency
mcf05340

Organism
Macaca fascicularis (crab-eating macaque) [GN:mcf]
Gene
102137458  ADA; adenosine deaminase [KO:K01488] [EC:3.5.4.4]
102143679  IL7R; interleukin 7 receptor [KO:K05072]
102144912  IL2RG; interleukin 2 receptor subunit gamma [KO:K05070]
102134669  JAK3; Janus kinase 3 [KO:K11218] [EC:2.7.10.2]
102134882  DCLRE1C; DNA cross-link repair 1C [KO:K10887] [EC:3.1.-.-]
102127914  RAG1; recombination activating 1 [KO:K10628] [EC:2.3.2.27]
102124625  RAG2; recombination activating 2 [KO:K10988]
102133701  CD3D; CD3d molecule [KO:K06450]
102133065  CD3E; CD3e molecule [KO:K06451]
102116047  PTPRC; protein tyrosine phosphatase, receptor type C [KO:K06478] [EC:3.1.3.48]
101864991  CD4; CD4 molecule [KO:K06454]
102124337  CD8A; CD8a molecule [KO:K06458]
102122433  CD8B; CD8b molecule [KO:K06459]
102131459  AIRE; autoimmune regulator [KO:K10603]
102142346  TAP1; transporter 1, ATP binding cassette subfamily B member [KO:K05653]
102143391  TAP2; transporter 2, ATP binding cassette subfamily B member [KO:K05654]
102140916  LCK; tyrosine-protein kinase Lck [KO:K05856] [EC:2.7.10.2]
102135442  ZAP70; tyrosine-protein kinase ZAP-70 [KO:K07360] [EC:2.7.10.2]
101866363  RFX5; regulatory factor X5 [KO:K08061]
102138204  RFXAP; regulatory factor X associated protein [KO:K08063]
102139597  RFXANK; regulatory factor X associated ankyrin containing protein [KO:K08062]
102129555  CIITA; class II major histocompatibility complex transactivator [KO:K08060] [EC:2.7.11.1]
102129315  ORAI1; ORAI calcium release-activated calcium modulator 1 [KO:K16056]
102118733  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102124047  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102136084  uncharacterized LOC102136084 [KO:K06856]
107128638  uncharacterized LOC107128638 [KO:K06856]
102136483  uncharacterized LOC102136483 [KO:K06856]
102141453  uncharacterized LOC102141453 [KO:K06856]
102140263  uncharacterized LOC102140263 [KO:K06856]
102137633  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102128954  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102135686  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102139130  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102136874  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102127638  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102132406  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102124737  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102122532  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102129333  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102125506  putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
102131516  IGLL1; immunoglobulin lambda like polypeptide 1 [KO:K06554]
102117446  IGLL5; immunoglobulin lambda like polypeptide 5 [KO:K06554]
102123895  CD79A; CD79a molecule [KO:K06506]
102138947  BLNK; B-cell linker [KO:K07371]
102123534  BTK; Bruton tyrosine kinase [KO:K07370] [EC:2.7.10.2]
102115368  IKBKG; inhibitor of nuclear factor kappa B kinase subunit gamma [KO:K07210]
102118696  CD40; CD40 molecule [KO:K03160]
102138630  CD40LG; CD40 ligand [KO:K03161]
101926436  UNG; uracil DNA glycosylase [KO:K03648] [EC:3.2.2.27]
102122751  AICDA; activation induced cytidine deaminase [KO:K10989] [EC:3.5.4.38]
102116512  ICOS; inducible T-cell costimulator [KO:K06713]
102116472  TNFRSF13C; TNF receptor superfamily member 13C [KO:K05151]
102145514  CD19; CD19 molecule [KO:K06465]
102126451  TNFRSF13B; tumor necrosis factor 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
mcf04640  Hematopoietic cell lineage
mcf04660  T cell receptor signaling pathway
mcf04662  B cell receptor signaling pathway
KO pathway
ko05340   

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