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Article

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.

Journal of pediatric hematology/oncology - 1 Jan 2022

Goktas Serdar, Azizoglu Zehra B, Petersheim Daniel, Erdogan Merve, Eke Gungor Hatice, Bisgin Atil, Tuğ Bozdoğan Sevcan, Eken Ahmet, Unal Ekrem, Klein Christoph, Patiroglu Turkan

Abstract excerpt

Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more frequent in countries where consanguineous marriages are common. In this report, we describe a 54-day-old female with neutropenia who presented with ecthyma gangrenosum. Clinical exome sequencing was used to identify the mutation. HAX1 messenger RNA and isoforms were examined by real-time quantitative and conventional...

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PMID: 33560082
DOI: 10.1097/MPH.0000000000002071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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