KEGG DISEASE: Bare lymphocyte syndrome type2

DISEASE: Bare lymphocyte syndrome type2

Entry

H00985                      Disease

Name

Bare lymphocyte syndrome type2

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. 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 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

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]

Other DBs

ICD-11:

4A01.12

ICD-10:

D81.6

OMIM:

209920

Reference

PMID:22027563

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:11862382 (CIITA)

Authors

Dziembowska M, Fondaneche MC, Vedrenne J, Barbieri G, Wiszniewski W, Picard C, Cant AJ, Steimle V, Charron D, Alca-Loridan C, Fischer A, Lisowska-Grospierre B

Title

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.

Journal

Immunogenetics 53:821-9 (2002)
DOI:10.1007/s00251-001-0395-7

Reference

PMID:10725724 (RFXANK)

Authors

Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ

Title

Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.

Journal

J Immunol 164:3666-74 (2000)
DOI:10.4049/jimmunol.164.7.3666

Reference

PMID:10079298 (RFX5)

Authors

Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ

Title

Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.

Journal

Immunogenetics 49:338-45 (1999)
DOI:10.1007/s002510050501

Reference

PMID:9118943 (RFXAP)

Authors

Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W

Title

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.

Journal

EMBO J 16:1045-55 (1997)
DOI:10.1093/emboj/16.5.1045

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (5)   
   PubMed (5)   
All databases (14)   

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