Specific granule deficiency-1 (SGD1) is an immunologic disorder characterized by onset of recurrent bacterial infections in infancy or early childhood. Both autosomal recessive and autosomal dominant inheritance have been reported. Affected individuals usually develop skin infections due to Staphylococcus aureus which may progress to more invasive infections. Otitis media and other upper respiratory infections are frequently observed. Neutrophils from patients with the disorder display atypical hyposegmented or bilobed nuclei and show decreased or absent expression of secondary and tertiary granule proteins due to a defect in myeloid maturation. Neutrophils may also demonstrate defects in chemotaxis or bactericidal activity; some patients show neutropenia and lack of eosinophils. Treatment consists mainly of prophylactic antibiotics, although at least 1 patient has been cured with hematopoietic stem cell transplantation (summary by Gombart et al., 2001 and Leszcynska et al., 2020).
Genetic Heterogeneity of Specific Granule Deficiency
See also SGD2 (617475), caused by mutation in the SMARCD2 gene (601736) on chromosome 17q23. [from
OMIM]