Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.

ABSTRACT: The presence of two different genetic conditions in the same individual is possible, especially in populations with consanguinity. In this case report, we present the coexistence of Artemis deficiency (OMIM 602450) and Three M (3M) syndrome (OMIM 273750). A 10-months-old male patient with neuromotor developmental delay was evaluated for immunodeficiency due to recurrent respiratory infections diarrhea and oral moniliasis from the age of 1.5 months. He had facial dysmorphism with rotated ears, flat nose and hypertelorism. Neurological examination revealed generalized hypotonia and mental motor delay. Immunological screening of the patient demonstrated mild lymphopenia, hypogammaglobulinemia, reduced number of CD3⁺ T cells (980 cells/mm³) and CD19⁺ B cells (3

SUBMITTER: Ceylan A 

PROVIDER: S-EPMC10373501 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature