KEGG   PATHWAY: ptg05340Help
Entry
ptg05340                    Pathway                                

Name
Primary immunodeficiency - Panthera tigris altaica (Amur tiger)
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
BRITE hierarchy
Pathway map
ptg05340  Primary immunodeficiency
ptg05340

Ortholog table
Organism
Panthera tigris altaica (Amur tiger) [GN:ptg]
Gene
102961564  ADA; adenosine deaminase [KO:K01488] [EC:3.5.4.4]
102953956  IL7R; interleukin 7 receptor [KO:K05072]
102966580  IL2RG; interleukin 2 receptor subunit gamma [KO:K05070]
102966280  JAK3; Janus kinase 3 [KO:K11218] [EC:2.7.10.2]
102964430  DCLRE1C; protein artemis [KO:K10887] [EC:3.1.-.-]
102960431  RAG1; recombination activating 1 [KO:K10628] [EC:2.3.2.27]
102960720  RAG2; recombination activating 2 [KO:K10988]
102969057  CD3D; CD3d molecule [KO:K06450]
102969557  CD3E; CD3e molecule [KO:K06451]
102954348  PTPRC; protein tyrosine phosphatase, receptor type C [KO:K06478] [EC:3.1.3.48]
102954103  CD4; CD4 molecule [KO:K06454]
102963003  CD8A; CD8a molecule [KO:K06458]
102963282  CD8B; CD8b molecule [KO:K06459]
102969103  TAP1; transporter 1, ATP binding cassette subfamily B member [KO:K05653]
102958303  TAP2; transporter 2, ATP binding cassette subfamily B member [KO:K05654]
102967826  LCK; LCK proto-oncogene, Src family tyrosine kinase [KO:K05856] [EC:2.7.10.2]
102969244  ZAP70; tyrosine-protein kinase ZAP-70 [KO:K07360] [EC:2.7.10.2]
102955141  RFX5; regulatory factor X5 [KO:K08061]
102967387  RFXAP; regulatory factor X associated protein [KO:K08063]
102963393  RFXANK; regulatory factor X associated ankyrin containing protein [KO:K08062]
102949369  CIITA; class II major histocompatibility complex transactivator [KO:K08060] [EC:2.7.11.1]
102972831  ORAI1; ORAI calcium release-activated calcium modulator 1 [KO:K16056]
102968706  IGLL5; Ig lambda-7 chain C region [KO:K06554]
107180058  CD79A; CD79a molecule [KO:K06506]
102962339  BLNK; B-cell linker [KO:K07371]
102948492  BTK; Bruton tyrosine kinase [KO:K07370] [EC:2.7.10.2]
102967956  IKBKG; inhibitor of nuclear factor kappa B kinase subunit gamma [KO:K07210]
102972342  CD40; CD40 molecule [KO:K03160]
102969350  CD40LG; CD40 ligand [KO:K03161]
102972788  UNG; uracil DNA glycosylase [KO:K03648] [EC:3.2.2.27]
102950698  AICDA; activation induced cytidine deaminase [KO:K10989] [EC:3.5.4.38]
102953620  ICOS; inducible T-cell costimulator [KO:K06713]
102955223  TNFRSF13C; TNF receptor superfamily member 13C [KO:K05151]
102953595  CD19; CD19 molecule [KO:K06465]
102955741  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
ptg04640  Hematopoietic cell lineage
ptg04660  T cell receptor signaling pathway
ptg04662  B cell receptor signaling pathway
KO pathway
ko05340   
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