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Article

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.

The Journal of allergy and clinical immunology - 1 Sept 2015

Schaballie Heidi, Rodriguez Rémy, Martin Emmanuel, Moens Leen, Frans Glynis, Lenoir Christelle, Dutré Joris, Canioni Danielle, Bossuyt Xavier, Fischer Alain, Latour Sylvain, Meyts Isabelle, Picard Capucine

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25935105
DOI: 10.1016/j.jaci.2015.03.009

Genes

STIM1

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 hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.PMID 25935105Read ↗

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.Semantic proximity Read ↗

Immunodeficiency due to mutations in ORAI1 and STIM1.Semantic proximity Read ↗

<i>STIM1</i> Mutation Associated with a Syndrome of Immunodeficiency and AutoimmunitySemantic proximity Read ↗

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.Semantic proximity Read ↗

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.Semantic proximity Read ↗

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencySemantic proximity Read ↗

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

The Ca2+ Sensor STIM in Human Diseases.Semantic proximity Read ↗

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken SyndromeSemantic proximity Read ↗

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.Semantic proximity Read ↗

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.Semantic proximity Read ↗

STIM1 GoF Mutants: Genotype-Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.Semantic proximity Read ↗

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