A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium.
Heidi
H
Schaballie
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.
Rémy
R
Rodriguez
Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.
Emmanuel
E
Martin
Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium.
Leen
L
Moens
Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
Glynis
G
Frans
Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.
Christelle
C
Lenoir
Department of Gastro-enterology, ZNA Hospitals, Antwerp, Belgium.
Joris
J
Dutré
Department of Pathology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Danielle
D
Canioni
Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
Xavier
X
Bossuyt
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.
Alain
A
Fischer
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.
Sylvain
S
Latour
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Microbiology and Immunology, KU Leuven, University of Leuven, Leuven, Belgium.
Isabelle
I
Meyts
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.
Capucine
C
Picard
D017668:Age of Onset; D001424:Bacterial Infections / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D049109:Cell Proliferation; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D016130:Immunophenotyping; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics* / Q000276:immunology; D009894:Opportunistic Infections / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D035781:Siblings; D000071737:Stromal Interaction Molecule 1; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology; D055815:Young Adult
D008565:Membrane Proteins; D009363:Neoplasm Proteins; C103530:STIM1 protein, human; D000071737:Stromal Interaction Molecule 1