Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis.

ABSTRACT:

Purpose

Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by defects in the MHC class II regulatory genes leading to abnormal T cells development and function. Therefore, patients mainly present with increased susceptibility to infections, diarrhea, and failure to thrive. In this report, we present one MHC class II deficient patient with a novel presentation with Hemophagocytic Lymphohistiocytosis (HLH).

Methods

Immunophenotyping of lymphocyte subpopulations and HLA-DR expression was assess by flow cytometry. Gene mutational analysis was performed by whole exome and Sanger sequencing.

Results

We reported a 7-year-old girl, who was diagnosed at age of 2 years with MHC class II deficiency by genetic test

SUBMITTER: Alroqi FJ 

PROVIDER: S-EPMC10904449 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature