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A Novel Nonsense Homozygous Mutation in SMARCD2 Gene Causing Specific Granulocyte Deficiency Type 2: Case Report

Year: 2024

Type: article

Abstract: Background: Specific granulocyte deficiency type 2(SGD2) is a rare disorder of neutrophil defect caused by mutation in SMARCD2 gene characterized by neutropenia, recurrent infections, skin and mucosal ulceration. Objective: We aim to describe a symptomatic patient with a novel homozygous nonsense variant in SMARCD2 to help expand the phenotypic description of this rare disease. Methods: A retrospective chart review was conducted on our patient. Data collection included information on demographic, clinical and laboratory data. Results: We report a 4 years old boy with history of delayed separation of cord, recurrent sepsis, skin infections as well as mucocutaneous ulceration, gastrointestinal bleeding and Epstein Barr virus induced lymphoproliferation. He had variable neutropenia, bone marrow biopsy revealed hypogranular neutrophils and no blast excess. Whole genome analysis detected a novel homozygous variant in SMARCD2 gene c.208C > T p.(Gln70*). Conclusion: This case report aims to provide insight on additional clinical and molecular features of SGD2. It also sheds light on potential role of SMARCD2 gene in other immune cells.

Source: International Journal of Immunology

DOI: 10.11648/j.iji.20241204.11