A case report of ultra-rare SMARCD2 deficiency and review of the literature.
Zahra Golchehre, Shahrzad Fallah, Yeganeh Eshaghkhani et al.
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Case in brief
The report describes a patient with congenital neutropenia due to specific granule deficiency type 2, a syndromic autosomal recessive disorder associated with loss-of-function variants in SMARCD2. Genetic testing identified a novel homozygous canonical splice-site variant, c.1181_1181 + 3del, in SMARCD2 (NM_001098426.2). The authors also reviewed previously published cases, noting that the disorder’s clinical presentation ranges from isolated neutrophil defects to severe multisystem involvement.
What made this case unusual
The patient was reported as the twelfth diagnosed with SMARCD2 deficiency and carried a novel homozygous canonical splice-site variant.
Diagnostic / clinical pearl
In congenital neutropenia, consider SMARCD2 deficiency among genetic causes, particularly when the presentation includes features of specific granule deficiency type 2.