Publication Date
1-1-2023
Journal
Frontiers in Pediatrics
DOI
10.3389/fped.2023.1211254
PMID
37520055
PMCID
PMC10373501
PubMedCentral® Posted Date
7-13-2023
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
ARTEMIS deficiency, 3M syndrome, immunodeficiency, whole-exome sequencing, coexistence of 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