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Article

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

Journal of clinical immunology - 29 Mar 2026

Gemici Karaaslan Betul, Benamar Mehdi, Ulas Selami, Aydemir Sezin, Yesil Gozde, Gezdirici Alper, Sari Aysun Ayaz, Nepesov Serdar, Cokugras Haluk, Camcioglu Yildiz, Ayaz Akif, Aydogmus Cigdem, Charbonnier Louis-Marie, Chatila Talal, Kiykim Ayca

Abstract excerpt

BACKGROUND: Phosphoglucomutase 3 deficiency (PGM3 deficiency) is a rare congenital disorder of glycosylation classically associated with severe immunodeficiency, skeletal abnormalities, and neurodevelopmental impairment. However, emerging evidence suggests that PGM3 deficiency may also present with attenuated or milder clinical phenotypes. In this study, we describe patients with a novel PGM3 variant exhibiting a...

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Source

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Identifiers

PMID: 41904308
DOI: 10.1007/s10875-026-02012-2
PMCID: PMC13156099

Genes

PGM3
STAT3
CCR7
CD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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