KEGG   DISEASE: H00984Help
Entry
H00984                      Disease                                

Name
Bare lymphocyte syndrome (BLS) type1
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
Inherited metabolic disease; Immune system disease
BRITE hierarchy
Pathway
ABC transporters
Phagosome
Antigen processing and presentation
Primary immunodeficiency
Gene
TAP1 [HSA:6890] [KO:K05653]
TAP2 [HSA:6891] [KO:K05654]
TAPBP [HSA:6892] [KO:K08058]
Comment
H00093 [DS:H00093] is the comprehensive entry of combined immunodeficiencies.
Other DBs
ICD-10: 
OMIM: 
Reference
  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)

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