A high prevalence of neutrophil‐specific antibodies in ELANE‐mutated severe congenital neutropenia

alexandrossfakianakis shared this article with you from Inoreader A high prevalence of neutrophil‐specific antibodies in ELANE‐mutated severe congenital neutropenia via Pediatric Blood & Cancer Abstract An assay for neutrophil-specific antibodies is frequently used in the workup of chronic severe neutropenia and is suggestive of autoimmune, or sporadically alloimmune neutropenia, rather than severe congenital neutropenia (SCN). We analyzed a neutropenia consortium database for the outcomes of antibody testing initiated before receiving genetic diagnosis in Polish SCN cohort. Test results, performed in a single reference laboratory, were available for 14 patients with ELANE-mutated SCN or cyclic neutropenia, and were frequently positive (36%). We note that the trigger for genetic studies in severe neutropenia should not be affected by antibody-positivity and should be clinically driven. View on Web

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