KEGG DISEASE: MHC class I deficiency

KEGG

DISEASE: MHC class I deficiency

Entry

H00984                      Disease

Name

MHC class I deficiency

Subgroup

Bare lymphocyte syndrome type1 (MHC1D1)
Hypercatabolic hypoproteinemia (MHC1D4) [DS:H01303]

Supergrp

Combined immunodeficiency [DS:H00093]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

Description

MHC class I deficiency (MHC1D) 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 in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H00984  MHC class I deficiency

Pathway

ABC transporters

Phagosome

Antigen processing and presentation

Gene

(MHC1D1) TAP1 [HSA:6890] [KO:K05653]
(MHC1D2) TAP2 [HSA:6891] [KO:K05654]
(MHC1D3) TAPBP [HSA:6892] [KO:K08058]
(MHC1D4) B2M [HSA:567] [KO:K08055]

Other DBs

ICD-11:

OMIM:

604571 620813 620814

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

Reference

PMID:25702838 (B2M)

Authors

Ardeniz O, Unger S, Onay H, Ammann S, Keck C, Cianga C, Gerceker B, Martin B, Fuchs I, Salzer U, Ikinciogullari A, Guloglu D, Dereli T, Thimme R, Ehl S, Schwarz K, Schmitt-Graeff A, Cianga P, Fisch P, Warnatz K

Title

beta2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

Journal

J Allergy Clin Immunol 136:392-401 (2015)
DOI:10.1016/j.jaci.2014.12.1937

LinkDB

» Japanese version

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