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Case Report: Association between cyclic neutropenia and SRP54 deficiency
Melinda Erdős1,2, Oksana Boyarchuk3, László Maródi1,2
1Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.
Severe congenital neutropenia (SCN) linked to SRP54 gene mutations typically lacks cyclic patterns and G-CSF response. This case reveals a patient with cyclic neutropenia and an SRP54 mutation who responded well to G-CSF therapy.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene are associated with severe congenital neutropenia (SCN).
- SRP54 deficiency typically presents as chronic neutropenia with maturation arrest and poor response to granulocyte colony-stimulating factor (G-CSF).
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