Name: Bare lymphocyte syndrome type 1A | Acronym: BLS1A
Alt. names: MHC class I deficiency 1 | MHC1D1

Gene: TAP1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1999

Last updated on: 2023-02-28 by

OMIM: 604571

Orphanet: -

MONDO: 0011476

DOID: -

ClinGen:

Description

It is characterized by the onset of recurrent and chronic bacterial sinobronchial infections in the first or second decades of life, usually with progression to bronchiectasis. Nasal polyps are commonly observed, and chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, and/or skin, which can be severe, may develop later. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens (HLA-A, HLA-B, and HLA-C) on the cell surface, leading to the alternative designation bare lymphocyte syndrome type I (BLS type I). Some patients may be asymptomatic (Sullivan et al., 1985; summary by Maeda et al., 1985; Moins-Teisserenc et al., 1999).[source:OMIM]

Management

Description of management option has not been reviewed yet.