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Article

A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.

Journal of pediatric hematology/oncology - 1 Mar 2022

Tayal Anshula, Meena Jagdish P, Kaur Ravneet, Tanwar Pranay, Gupta Neerja, Kabra Madhulika, Kabra Sushil K

Abstract excerpt

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...

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PMID: 33633030
DOI: 10.1097/MPH.0000000000002110

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A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.PMID 33633030Read ↗

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Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.Semantic proximity Read ↗

HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient.Semantic proximity Read ↗

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Semantic proximity Read ↗

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Severe congenital neutropenias.Semantic proximity Read ↗

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.Semantic proximity Read ↗

A case report of de novo ELANE c.416C>T mutation causing cyclic neutropenia in a 7-year-old girl.Semantic proximity Read ↗

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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.Semantic proximity Read ↗

Genetic insights into congenital neutropenia.Semantic proximity Read ↗

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