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

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

doi:10.1016/j.jaci.2015.03.009

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

J Allergy Clin Immunol. 2015 Sep;136(3):816-819.e4. doi: 10.1016/j.jaci.2015.03.009. Epub 2015 Apr 30.

Authors

Affiliations

¹ Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium.
² Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University - Sorbonne Paris Cité, Paris, France.
³ Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.
⁴ Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium.
⁵ Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
⁶ Department of Gastro-enterology, ZNA Hospitals, Antwerp, Belgium.
⁷ Department of Pathology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
⁸ Study Center for Immunodeficiency, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Institut IMAGINE, Paris, France.
⁹ Paris Descartes University - Sorbonne Paris Cité, Paris, France; Study Center for Immunodeficiency, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Institut IMAGINE, Paris, France. Electronic address: capucine.picard@inserm.fr.

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

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Age of Onset
Bacterial Infections / complications
Bacterial Infections / genetics*
Bacterial Infections / immunology
Bacterial Infections / pathology
Cell Proliferation
Child
Consanguinity
Female
Humans
Immunologic Deficiency Syndromes / complications
Immunologic Deficiency Syndromes / genetics*
Immunologic Deficiency Syndromes / immunology
Immunologic Deficiency Syndromes / pathology
Immunophenotyping
Male
Membrane Proteins / genetics*
Membrane Proteins / immunology
Mutation*
Neoplasm Proteins / genetics*
Neoplasm Proteins / immunology
Opportunistic Infections / complications
Opportunistic Infections / genetics*
Opportunistic Infections / immunology
Opportunistic Infections / pathology
Siblings
Stromal Interaction Molecule 1
T-Lymphocytes / immunology
T-Lymphocytes / pathology
Young Adult

Substances

Membrane Proteins
Neoplasm Proteins
STIM1 protein, human
Stromal Interaction Molecule 1