ArticleFrontiers in pediatrics2023
Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.Molecular syndromology · 2025Article
- Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.Case reports in immunology · 2025Article
- 3M syndrome in Saudi Arabia: a case series study and literature review.Frontiers in endocrinology · 2025Review
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6 authors at 3 institutions in 2 countries.
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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
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