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

• Published in: Journal of allergy and clinical immunology 2015-09, Vol.136 (3), p.816-819.e4
• Main Authors: Schaballie, Heidi, MD, Rodriguez, Rémy, MS, Martin, Emmanuel, PhD, Moens, Leen, PhD, Frans, Glynis, MPharm, Lenoir, Christelle, MS, Dutré, Joris, MD, Canioni, Danielle, MD, PhD, Bossuyt, Xavier, MD, PhD, Fischer, Alain, MD, PhD, Latour, Sylvain, PhD, Meyts, Isabelle, MD, PhD, Picard, Capucine, MD, PhD
• Format: Article
• Language: English
• Subjects: Age; Age of Onset; Allergy and Immunology; Apoptosis; Bacterial Infections - complications; Bacterial Infections - genetics; Bacterial Infections - immunology; Bacterial Infections - pathology; Cell Proliferation; Chicken pox; Child; Consanguinity; Enamel; Female; Humans; Immunologic Deficiency Syndromes - complications; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Immunologic Deficiency Syndromes - pathology; Immunophenotyping; Inflammatory bowel disease; Lymphocytes; 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; Patients; Protein expression; Proteins; Psoriasis; Sepsis; Siblings; Streptococcus infections; Stromal Interaction Molecule 1; T cell receptors; T-Lymphocytes - immunology; T-Lymphocytes - pathology; Young Adult
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/j.jaci.2015.03.009

[...]neither patient displayed autoimmune cytopenia. Because no infectious cause of colitis could be demonstrated in patient 7, both manifestations might be explained by immune dysregulation.