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Article

TCIRG1-associated congenital neutropenia.

Human mutation - 1 Jul 2014

Makaryan Vahagn, Rosenthal Elisabeth A, Bolyard Audrey Anna, Kelley Merideth L, Below Jennifer E, Bamshad Michael J, Bofferding Kathryn M, Smith Joshua D, Buckingham Kati, Boxer Laurence A, Skokowa Julia, Welte Karl, Nickerson Deborah A, Jarvik Gail P, Dale David C

Abstract excerpt

Severe congenital neutropenia (SCN) is a rare hematopoietic disorder, with estimated incidence of 1 in 200,000 individuals of European descent, many cases of which are inherited in an autosomal dominant pattern. Despite the fact that several causal genes have been identified, the genetic basis for >30% of cases remains unknown. We report a five-generation family segregating a novel single nucleotide variant (SNV)...

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Source

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Identifiers

PMID: 24753205
DOI: 10.1002/humu.22563
PMCID: PMC4055522

Genes

TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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