Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported. Disease data Classification Disease Synonyms Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 1 MHC class I deficiency ORPHA code 34592 OMIM code 241600 ICD10 code D81.6 ICD11 code 4A01.11 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl