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

A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.

Journal of clinical immunology - 1 Feb 2021

Stern Heather, Donkó Agnes, Shapiro Teresa, Hsu Amy P, Leto Thomas L, Holland Steven M, Andreae Doerthe Adriana

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adenylate Kinase
Share to Infant, Newborn
Share to Mutation
Share to Severe Combined Immunodeficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to T-Lymphocytes

Source

Identifiers

PMID: 33188496
DOI: 10.1007/s10875-020-00915-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.PMID 33188496Read ↗

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

Gain-of-function RAC2 variants presenting as autoinflammatory phenotypesSemantic proximity Read ↗

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

Clinical and functional spectrum of RAC2-related immunodeficiencySemantic proximity Read ↗

A Novel RAC2 Mutation Causing Combined ImmunodeficiencySemantic 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 ↗

Unusual presentation of combined immunodeficiency in a child with homozygous DOCK8 mutation.Semantic proximity Read ↗

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.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 ↗

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