Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and functional spectrum of RAC2-related immunodeficiency

9 Jan 2024

Abstract excerpt

ABSTRACT: Mutations in the small Rho-family guanosine triphosphate hydrolase RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neutrophilic disorder resembling leukocyte adhesion deficiency (LAD), and later-onset combined immune deficiency (CID). We investigated 54 patients (23 previously...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood disorders and treatments
Share to Erythrocyte Function and Pathophysiology
Share to Immunodeficiency and Autoimmune Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38194689
DOI: 10.1182/blood.2023022098

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and functional spectrum of RAC2-related immunodeficiencyPMID 38194689Read ↗

Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.Semantic proximity Read ↗

Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 MutationSemantic proximity Read ↗

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.Semantic proximity Read ↗

Rac GTPases in human diseases.Semantic proximity Read ↗

Rac GTPases in Human DiseasesSemantic proximity Read ↗

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.Semantic proximity Read ↗

A Novel RAC2 Mutation Causing Combined Immunodeficiency.Semantic proximity Read ↗

Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.Semantic proximity Read ↗

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.Semantic proximity Read ↗

Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.Semantic proximity Read ↗

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.Semantic proximity Read ↗

Small Rho GTPases and their associated RhoGEFs mutations promote immunological defects in primary immunodeficiencies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.