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Article

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

Medicine - 4 Nov 2022

Wang Jing, Zhang Haitao, Wang Yu, Liang Lei, Yang Zeyu

Abstract excerpt

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...

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Identifiers

PMID: 36343040
DOI: 10.1097/MD.0000000000031357
PMCID: PMC9646559

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Related research

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Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review.PMID 36343040Read ↗

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.Semantic proximity Read ↗

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De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.Semantic proximity Read ↗

Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.Semantic proximity Read ↗

Congenital neutropenia in a newborn.Semantic proximity Read ↗

[Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].Semantic proximity Read ↗

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

Severe congenital neutropenias.Semantic proximity Read ↗

Congenital neutropenia: diagnosis, molecular bases and patient management.Semantic proximity Read ↗

Congenital neutropenia: From lab bench to clinic bedside and back.Semantic proximity Read ↗

[Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report].Semantic proximity Read ↗

ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.Semantic proximity Read ↗

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