KEGG   DISEASE: Bare lymphocyte syndrome type2
Entry
H00985                      Disease                                

Name
Bare lymphocyte syndrome type2
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. A feature of loss in constitutive and inducible MHC II proteins have been grouped as BLS type II. BLS type III is recognized by the loss of both MHC I and MHC II molecules.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00985  Bare lymphocyte syndrome type2
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
    H00985  Bare lymphocyte syndrome type2
Pathway
hsa05340  Primary immunodeficiency
Related
pathway
hsa04612  Antigen processing and presentation
Gene
CIITA [HSA:4261] [KO:K08060]
RFXANK [HSA:8625] [KO:K08062]
RFX5 [HSA:5993] [KO:K08061]
RFXAP [HSA:5994] [KO:K08063]
Comment
H00093 [DS:H00093] is the comprehensive entry of combined immunodeficiencies.
Other DBs
ICD-11: 4A01.12
ICD-10: D81.6
OMIM: 209920
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)
DOI:10.1016/j.imlet.2011.10.007

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