Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

ABSTRACT:

Background

Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.

Methods

The presenting phenotypes, long-term outcomes, and treatment responses were evaluated prospectively in 15 CARMIL2-deficient patients, including 13 novel cases. Lymphocyte subpopulations, protein expression, regulatory T (Treg), and circulating T follicular

SUBMITTER: Kolukisa B 

PROVIDER: S-EPMC9976932 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature