2022•PubMedRequires access
A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.
Anshula Tayal, Jagdish Prasad Meena, Ravneet Kaur, Pranay Tanwar, Neerja Gupta, Madhulika Kabra, Sushil Kumar Kabra
Open publisher page 0 citations
Abstract
BACKGROUND: Cyclic neutropenia is a rare genetic disorder causing the arrest of neutrophil function and is characterized by periodic neutropenia and recurrent infections. Patients with cyclic neutropenia with autosomal dominant, sporadic, and X-linked may have mutations in the ELANE gene, and autosomal recessive cases have homozygous/compound heterozygous variants in the HAX1 gene primarily. OBSERVATION: The authors describe a novel variant in the HAX1 gene, which was detected by next-generation sequencing in an 8-year-old male child who presented with recurrent infections and neutropenia. CONCLUSION: The patient extends the clinical variability associated with HAX1 variants and highlights the importance of genetic investigations in patients with suspected cyclic neutropenia.