Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency

G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.210delC variant...

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Veröffentlicht in:	Journal of clinical immunology 2025-12, Vol.45 (1), p.53-53, Article 53
Hauptverfasser:	Zhen, Xin, Betti, Michael J., Kars, Meltem Ece, Patterson, Andrew R., Medina-Torres, Edgar Alejandro, Scheffler Mendoza, Selma Cecilia, Herrera Sánchez, Diana Andrea, Lopez-Herrera, Gabriela, Svyryd, Yevgeniya, Mutchinick, Osvaldo M., Gamazon, Eric R., Rathmell, Jeffrey C., Itan, Yuval, Markle, Janet, O’Farrill Romanillos, Patricia, Lugo-Reyes, Saul Oswaldo, Martinez-Barricarte, Ruben
Format:	Artikel
Sprache:	eng
Schlagworte:	ancestry B-Lymphocytes - immunology Biomedical and Life Sciences Biomedicine Child Child, Preschool Congenital Bone Marrow Failure Syndromes - diagnosis Congenital Bone Marrow Failure Syndromes - genetics Diagnosis Epstein-Barr virus Female Founder Effect Frameshift Mutation Glucose-6-Phosphatase - genetics Glycolysis Glycolysis - genetics Haplotypes Herpesvirus 4, Human Humans Immunology Infectious Diseases Internal Medicine loss-of-function mutation Lymphocytes B Male Medical Microbiology metabolites Mexico Mutation Mutation - genetics Neutropenia Neutropenia - congenital Neutropenia - diagnosis Neutropenia - genetics Pathogenicity Patients protein content protein synthesis
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