Titre
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Darazam, I.A.
Auteure/Auteur
Hakamifard, A.
Auteure/Auteur
Momenilandi, M.
Auteure/Auteur
Materna, M.
Auteure/Auteur
Gharehbagh, F.J.
Auteure/Auteur
Shahrooei, M.
Auteure/Auteur
Olyaei, N.A.
Auteure/Auteur
Zerehpoosh, F.B.
Auteure/Auteur
Fayand, A.
Auteure/Auteur
Hatami, F.
Auteure/Auteur
Lotfollahi, L.
Auteure/Auteur
Mansouri, N.
Auteure/Auteur
Casanova, J.L.
Auteure/Auteur
Béziat, V.
Auteure/Auteur
Mansouri, D.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1573-2592
Statut éditorial
Publié
Date de publication
2023-01
Volume
43
Numéro
1
Première page
217
Dernière page/numéro d’article
228
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
Major histocompatibility complex class I (MHC-I) deficiency, also known as bare lymphocyte syndrome type 1 (BLS-1), is a rare autosomal recessively inherited immunodeficiency disorder with remarkable clinical and biological heterogeneity. Transporter associated with antigen processing (TAP) is a member of the ATP-binding cassette superfamily of transporters and consists of two subunits, TAP1 or TAP2. Any defect resulting from a mutation or deletion of these two subunits may adversely affect the peptide translocation in the endoplasmic reticulum, which is an important process for properly assembling MHC-I molecules. To date, only 12 TAP2-deficient patients were reported in the literature. Herein, we described two Iranian cases with 2 and 3 decades of delayed diagnosis of chronic necrotizing granulomatous skin lesions due to TAP2 deficiency without pulmonary involvement. Segregation analysis in family members identified 3 additional homozygous asymptomatic carriers. In both asymptomatic and symptomatic carriers, HLA-I expression was only 4-15% of the one observed in healthy controls. We performed the first deep immunophenotyping in TAP2-deficient patients. While total CD8 T cell counts were normal as previously reported, the patients showed strongly impaired naïve CD8 T cell counts. Mucosal-associated invariant T (MAIT) cells and invariant natural killer T (iNKT) cell counts were increased.
PID Serval
serval:BIB_2BAA256188AB
PMID
Date de création
2022-10-25T13:15:48.812Z
Date de création dans IRIS
2025-05-20T19:41:11Z