[Patient with severe congenital neutropenia associated with ELANE gene mutation: c.684C>G, p.Tyr228Ter]

Severe congenital neutropenia type 1 (SCN1) is a rare inherited disorder caused by arrested granulocyte maturation, frequently associated with mutations in the ELANE gene, which encodes neutrophil elastase.

A 3-year-5-month-old female patient with a history of recurrent perianal infections and necrotizing fasciitis secondary to appendicitis complicated by septic shock. She required laparotomy, appendectomy, ileostomy, debridement, and vasoactive amine support. During her hospitalization, persistent severe neutropenia, lymphopenia, and eosinophilia were identified. Bone marrow aspirate showed arrested myeloid leukemia with an absence of neutrophils. Among the infectious isolates, the following were isolated: P. aeruginosa and Stenotrophomonas maltophilia, as well as rhinovirus/enterovirus. The neutrophil count remained persistently low (100-530/μL), responding to G-CSF (5 mcg/kg/dose). Genetic sequencing revealed a heterozygous missense mutation in ELANE (c.684C>G, p.Tyr228Ter).

The diagnosis of NCG1 was clinically supported by severe infections, persistent neutropenia, absence of mature granulocytes in the bone marrow, and genetic confirmation. This mutation generates a premature stop codon. Other relevant variants include GFI1, HAX1, VPS45, JAGN1, CSF3R, and WAS. NCG1 should be suspected in pediatric patients with recurrent severe infections and persistent neutropenia. Early identification and the use of G-CSF can improve clinical outcome and reduce infectious complications.