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

The Journal of allergy and clinical immunology - 1 Aug 2015

Chou Janet, Badran Yousef R, Yee Christina S K, Bainter Wayne, Ohsumi Toshiro K, Al-Hammadi Suleiman, Pai Sung-Yun, Feske Stefan, Geha Raif S

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 Calcium Channels
Share to Consanguinity
Share to Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion Transport

Share to ORAI1 Protein

Share to Primary Cell Culture

Share to T-Lymphocytes

Share to Tetradecanoylphorbol Acetate

Source

Open in PubMed Open full text

Identifiers

PMID: 26070885
DOI: 10.1016/j.jaci.2015.03.050
PMCID: PMC4530045

Genes

ORAI1

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 mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.PMID 26070885Read ↗

Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity.Semantic proximity Read ↗

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.Semantic proximity Read ↗

Molecular defects in T- and B-cell primary immunodeficiency diseasesSemantic proximity Read ↗

Combined immunodeficiency associated with homozygous MALT1 mutations.Semantic proximity Read ↗

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthoodSemantic proximity Read ↗

A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.Semantic proximity Read ↗

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.Semantic proximity Read ↗

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.Semantic proximity Read ↗

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

Combined immunodeficiencies with nonfunctional T lymphocytes.Semantic proximity Read ↗

Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report.Semantic proximity Read ↗

Unusual phenotype of heterozygous LOF mutation in IKZF1, with common variable immunodeficiency presenting initially as immune thrombocytopenia: A case report.Semantic proximity Read ↗

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