KEGG   DISEASE: T-B-Severe combined immunodeficiency
Entry
H00092                      Disease                                

Name
T-B-Severe combined immunodeficiency
  Subgroup
Adenosine deaminase deficiency [DS:H02309]
Description
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. It is one of the most severe immunodeficiencies and is associated with severe depletion of B cells, T cells, and NK cells. V(D)J- recombination deficiency caused by defects in recombinase-activating gene 1 (RAG1), RAG2 and Artemis (DCLRE1C) leads to a T-B-SCID phenotype that is characterized by an arrest of B- and T-cell maturation at the stage of pro-B and pre-T cells, respectively, whereas natural killer (NK)-cell maturation is not affected. V(D)J recombination generates the diversity of B- and T-cell primary immune repertoires.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00092  T-B-Severe combined immunodeficiency
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H00092  T-B-Severe combined immunodeficiency
Pathway
hsa05340  Primary immunodeficiency
Gene
ADA [HSA:100] [KO:K01488]
RAG-1 [HSA:5896] [KO:K10628]
RAG-2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]
AK2 [HSA:204] [KO:K00939]
PRKDC [HSA:5591] [KO:K06642]
Other DBs
ICD-11: 4A01.10
ICD-10: D81
MeSH: C563440
OMIM: 102700 601457 602450 267500 615966
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
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
PMID:9737224
  Authors
Ten RM.
  Title
Primary immunodeficiencies.
  Journal
Mayo Clin Proc 73:865-72 (1998)
DOI:10.4065/73.9.865
Reference
  Authors
Lim MS, Elenitoba-Johnson KS.
  Title
The molecular pathology of primary immunodeficiencies.
  Journal
J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X
Reference
  Authors
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
  Title
Genetic diagnosis of primary immune deficiencies.
  Journal
Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004
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
Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
  Title
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
  Journal
Nat Genet 41:101-5 (2009)
DOI:10.1038/ng.265
Reference
  Authors
Patel NC, Chinen J, Rosenblatt HM, Hanson IC, Krance RA, Paul ME, Abramson SL, Noroski LM, Davis CM, Seeborg FO, Foster SB, Leung KS, Brown BS, Ritz J, Shearer WT
  Title
Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning.
  Journal
J Allergy Clin Immunol 124:1062-9.e1-4 (2009)
DOI:10.1016/j.jaci.2009.08.041
Reference
  Authors
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
  Title
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
  Journal
J Clin Immunol 35:696-726 (2015)
DOI:10.1007/s10875-015-0201-1
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