KEGG   DISEASE: Bare lymphocyte syndrome type1
Entry
H00984                      Disease                                
Name
Bare lymphocyte syndrome type1
  Supergrp
Combined immunodeficiency [DS:H00093]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]
Description
Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression. BLS could be grouped as Type I, Type II and Type III based on defective surface MHC expression. The mutations in the TAP subunits are one of the most common features of BLS type I. MHC I deficiency due to tapasin (TAPBP) deficiency was also discovered recently.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00984  Bare lymphocyte syndrome type1
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
    H00984  Bare lymphocyte syndrome type1
Pathway
hsa05340  Primary immunodeficiency
Related
pathway
hsa02010  ABC transporters
hsa04145  Phagosome
hsa04612  Antigen processing and presentation
Gene
TAP1 [HSA:6890] [KO:K05653]
TAP2 [HSA:6891] [KO:K05654]
TAPBP [HSA:6892] [KO:K08058]
Other DBs
ICD-11: 4A01.11
ICD-10: D81.6
OMIM: 604571
Reference
PMID:22027563 (TAP1, TAP2)
  Authors
Shrestha D, Szollosi J, Jenei A
  Title
Bare lymphocyte syndrome: an opportunity to discover our immune system.
  Journal
Immunol Lett 141:147-57 (2012)
DOI:10.1016/j.imlet.2011.10.007
Reference
PMID:12149238 (TAPBP)
  Authors
Yabe T, Kawamura S, Sato M, Kashiwase K, Tanaka H, Ishikawa Y, Asao Y, Oyama J, Tsuruta K, Tokunaga K, Tadokoro K, Juji T
  Title
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
  Journal
Blood 100:1496-8 (2002)
DOI:10.1182/blood-2001-12-0252
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