Open AccessNovel variants in CIITA caused type II bare lymphocyte syndrome: A case report
Author(s) -
Yi Zhang,
Yufei Xu,
Yanrong Qing,
Lian Duan,
Jie Zhu,
Tingting Yu,
Lei Yin,
Ruen Yao,
Jian Wang
Publication year - 2024
Publication title -
asian pacific journal of allergy and immunology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.405
H-Index - 33
ISSN - 0125-877X
DOI - 10.12932/ap-020720-0898
Subject(s) - ciita , sanger sequencing , medicine , primary immunodeficiency , rash , gene , immunology , genetics , biology , mutation , major histocompatibility complex , immune system , mhc class ii
Type II bare lymphocyte syndrome (BLS II) group A is a rare primary severe immunodeficiency caused by defects in CIITA, one of genes encoding transcriptional regulatory factors for MHC II molecules.