HLA class 1 deficiency
MIM.604571 6p21.3
Definition: Autosomal recessive immune deficiency.
Synopsis
chronic otitis media
ectopia lentis
nasal polyposis
chronic sinusitis
pansinusitis
unilateral bronchiectasis
bilateral bronchiectasis
bronchiolitis
bronchitis
bronchial obstruction
bacterial infections of the respiratory tract
emphysema
localized cutaneous necrobiosis lipoidica
pigmentary abnormalities
deep skin ulcers
normal CD8+/CD4+ ratio
reduced life expectancy
granulomatous syndromes (10560675)
- pseudo-Wegener granulomatosis (10560675)
Etiology
Caused by mutation in the transporter, ATP-binding cassette, major histocompatibility complex, 2 gene (TAP2) (MIM.170261)
bare lymphocyte syndrome type I (MIM.604571) can be caused by mutation in the TAP2 (MIM.170261), TAP1 (MIM.170260), or TAPBP (MIM.601962) gene.
See also
TAPs
- TAP deficiency syndrome
genetic immunodeficiencies
References
de la Salle H, Fricker D, Hanau D, Langguth D, Hogan P. Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. Hum Genet. 2007 Jun;121(5):651. PMID: 17879452
de la Salle H, Fricker D, Hanau D, Dogu F, Ikinciogullari A. Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. Hum Genet. 2007 Jun;121(5):646-7. PMID: 17879436
Gadola SD, Moins-Teisserenc HT, Trowsdale J, Gross WL, Cerundolo V. TAP deficiency syndrome. Clin Exp Immunol. 2000 Aug;121(2):173-8. PMID: 10931128
de la Salle H, Zimmer J, Fricker D, Angenieux C, Cazenave JP, Okubo M, Maeda H, Plebani A, Tongio MM, Dormoy A, Hanau D. HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. J Clin Invest. 1999 Mar;103(5):R9-R13. PMID: 10074495
Moins-Teisserenc HT, Gadola SD, Cella M, Dunbar PR, Exley A, Blake N, Baykal C, Lambert J, Bigliardi P, Willemsen M, Jones M, Buechner S, Colonna M, Gross WL, Cerundolo V. Association of a syndrome resembling Wegener?s granulomatosis with low surface expression of HLA class-I molecules. Lancet. 1999 Nov 6;354(9190):1598-603. PMID: 10560675