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Heterozygous variants of CLPB are a cause of severe congenital neutropenia.

Blood - 3 Feb 2022

Warren Julia T, Cupo Ryan R, Wattanasirakul Peeradol, Spencer David H, Locke Adam E, Makaryan Vahagn, Bolyard Audrey Anna, Kelley Merideth L, Kingston Natalie L, Shorter James, Bellanné-Chantelot Christine, Donadieu Jean, Dale David C, Link Daniel C

Abstract excerpt

Severe congenital neutropenia is an inborn disorder of granulopoiesis. Approximately one third of cases do not have a known genetic cause. Exome sequencing of 104 persons with congenital neutropenia identified heterozygous missense variants of CLPB (caseinolytic peptidase B) in 5 severe congenital neutropenia cases, with 5 more cases identified through additional sequencing efforts or clinical sequencing. CLPB...

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Identifiers

PMID: 34115842
DOI: 10.1182/blood.2021010762
PMCID: PMC8814677

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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