Abstract
Congenital neutropaenia can be broadly divided into two subtypes: Severe congenital neutropenia (SCN) and cyclical neutropaenia. SCN is a rare genetically heterogeneous disease. This three-month-old baby girl presented with prolonged febrile illness and found chronic severe neutropenia. Cyclical neutropaenia was excluded by doing serial full blood counts. Bone marrow examination revealed reversal of erythroid to myeloid ratio with suppressed granulopoiesis. Here we report a genetically diagnosed infant with SCN due to ELANE mutation in Sri Lanka using clinical exome sequencing and we highlight the usefulness of giving priority to the analysis of ELANE mutations in a resource poor setting, as they are the most common group of mutations among all genetic mutations that result in congenital neutropaenia.
Highlights
Congenital neutropaenia can be broadly divided into two subtypes: Severe congenital neutropenia (SCN) and cyclical neutropaenia
Cyclical neutropaenia was excluded by doing serial full blood counts
We report a genetically diagnosed infant with SCN due to ELANE mutation in Sri Lanka using clinical exome sequencing and we highlight the usefulness of giving priority to the analysis of ELANE mutations in a resource poor setting, as they are the most common group of mutations among all genetic mutations that result in congenital neutropaenia
Summary
Congenital neutropaenia can be broadly divided into two subtypes: Severe congenital neutropenia (SCN) and cyclical neutropaenia.
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