Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review.

ABSTRACT:

Rationale

The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection.

Patient concerns

We report a case of SCN withMycobacterium abscess infection caused by ELANE gene mutation. Conventional antiinfection and granulocyte colony-stimulating factor (G-CSF) did not ameliorate patient's symptoms. The absolute neutrophil count (ANC) most of the time < 0.50 × 109/L.

Diagnoses

According to Gene sequencing and other tests, the patient was diagnosed with SCN caused by ELANE gene mutation, severe pneumonia, Mycobacteriosis abscess, nutritional iron deficiency anemia, multi

SUBMITTER: Wang J 

PROVIDER: S-EPMC9646559 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature