SEVERE CONGENİTAL NEUTROPENİA WİTH GLUCOSE-6-PHOSPHATASE CATALYTİC SUBUNİT 3 (G6PC3) DEFİCENCY OR DURSUN SYNDROME DİAGNOSED AT ADULTHOOD

CATMA, Yunus; Sakci, Elif; Kalayci, Tugba; Besisik, Sevgi Kalayoglu

doi:10.1016/j.htct.2024.04.041

Hematology, Transfusion and Cell Therapy

ISSN: 2531-1379

Hematology, Transfusion and Cell Therapy is a quarterly scientific publication of the Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular (ABHH), Associazione Italo-Brasiliana di Ematologia (AIBE), Eurasian Hematology Oncology Group (EHOG), and Sociedade Brasileira de Oncologia Pediátrica (SOBOPE).

Hematology, Transfusion and Cell Therapy publishes original articles, review articles and case reports covering various areas in the field of hematology and hemotherapy. The journal was previously published, until 2016, as Revista Brasileira de Hematologia e Hemoterapia.

ISSN print: 2531-1379
ISSN online: 2531-1387

Published by Elsevier Editora Ltda, Rio de Janeiro, Brazil.

Congresso Brasileiro de Hematologia, Hemoterapia e Terapia Celular. HEMO 2024. List of conference abstracts.

Indexed in:

Scopus, Medline, Directory of Open Access Journals (DOAJ), PubMed Central (PMC), Emerging Sources Citation Index (ESCI), SCImago Journal Rank (SJR), SNIP

Severe congenital neutropenia is rare and usually diagnosed at childhood. G6PC3 deficiency emerge by mutation in glucose metabolism controlling genes as a syndromic variant. We here present a young adult case with unexplained neutropenia after kidney transplantation for FMF related AA amyloidosis. He had facial dismorphism, growth retardation, and atrial septal defect. Parents were relatives and he had recurrent infection history. Genetic screening revealed G6PC3 gene mutation in patient.

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