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Article

Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency.

Journal of clinical immunology - 6 Jan 2025

Walsh Rebecca B, McNaughton Peter, Nademi Zohreh, Laberko Alexandra, Balashov Dmitry, Al-Mousa Hamoud, Arkwright Peter D, Wynn Robert F, Flood Terry, Williams Eleri, Cant Andrew, Abinun Mario, Hambleton Sophie, Slatter Mary, Gennery Andrew R, Lum Su Han, Owens Stephen

Abstract excerpt

Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic stem cell transplantation (HSCT) has been suggested as a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39762600
DOI: 10.1007/s10875-024-01850-2
PMCID: PMC11703983

Genes

RIPK1
CD19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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