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Article

CLPB deficiency-associated congenital neutropenia: A rare case report and literature review.

Medicine - 16 Jan 2026

Sun Yuxing, Tang Min, He Juan, Hu Xiaoqin, Li Ming, Tan Li

Abstract excerpt

RATIONALE: Congenital neutropenia (CN) encompasses a group of disorders characterized by impaired neutrophil differentiation, resulting in persistently low neutrophil counts in the peripheral blood. It presents with recurrent infections and an elevated risk of leukemia. Multiple genetic mutations have been implicated in the pathogenesis of neutropenia. PATIENT CONCERNS: This paper reports the case of a...

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Identifiers

PMID: 41560087
DOI: 10.1097/MD.0000000000046987
PMCID: PMC12826312

Genes

CLPB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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