Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant.

Autor:	Kihtir Z; Department of Neonatology, Akdeniz University Medical Faculty, Antalya, Turkey., Çelik K; Department of Neonatology, Akdeniz University Medical Faculty, Antalya, Turkey., Tayfun Küpesiz F; Department of Pediatric Hematology and Oncology, Akdeniz University Medical Faculty, Antalya, Turkey., Küpesiz OA; Department of Pediatric Hematology and Oncology, Akdeniz University Medical Faculty, Antalya, Turkey., Kocacik Uygun DF; Department of Pediatric Allergy and Immunology, Akdeniz University Medical Faculty, Antalya, Turkey., Arayici S; Department of Neonatology, Akdeniz University Medical Faculty, Antalya, Turkey., Ongun H; Department of Neonatology, Akdeniz University Medical Faculty, Antalya, Turkey., Acarbulut İ; Department of Neonatology, Akdeniz University Medical Faculty, Antalya, Turkey., Sağlam C; Department of Neonatology, Akdeniz University Medical Faculty, Antalya, Turkey., Ceylaner G; Intergen Genetic and Rare Diseases Diagnosis and Research Center, Ankara, Turkey., Bingöl A; Department of Pediatric Allergy and Immunology, Akdeniz University Medical Faculty, Antalya, Turkey.
Jazyk:	angličtina
Zdroj:	Pediatric allergy, immunology, and pulmonology [Pediatr Allergy Immunol Pulmonol] 2022 Mar; Vol. 35 (1), pp. 43-46.
DOI:	10.1089/ped.2021.0070
Abstrakt:	Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enhancer-binding protein epsilon (CEBPE) gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous c.511 C > T (p.Gln171Ter) mutation in the SMARCD2 gene of SGD type 2, which was successfully treated with bone marrow transplantation. Case: A male infant presented to our neonatal intensive care unit on the second day of life with an icteric appearance and mild hypotonia. He was evaluated for immunodeficiency as the cause of delayed cord separation and refractory neutropenia. At 6 weeks of age, SGD type 2 with a new variant was diagnosed and successfully treated by bone marrow transplantation. Conclusion: SGD is an immunodeficiency disease that is quite rare. However, we believe that SGD diagnosis and associated new variants can be detected more frequently with the widespread use of all whole-exome sequencing techniques.
Databáze:	MEDLINE
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