Frémond, Marie-Louise Rodero, Mathieu Paul Jeremiah, Nadia Belot, Alexandre Jeziorski, Eric Duffy, Darragh Bessis, Didier Cros, Guilhem Rice, Gillian I. Charbit, Bruno
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Published in
Journal of Allergy and Clinical Immunology
To the Editor:
Gain-of-function mutations in TMEM173 encoding stimulator of interferon genes (STING) underlie a novel type I interferonopathy,1 termed SAVI (STING-associated vasculopathy with onset in infancy).2, 3 This disease is associated with high childhood morbidity and mortality. STING is a central component of DNA sensing that leads to the...
Hauck Md, Fabian Clotilde Randriamampita Emmanuel Martin, Phdc St Ephane Gerart, Phda Nathalie Lambert As, Phd Lim Ms, Annick Soulier Md Phd, Jean Maciorowski Bs, Zosia Touzot Md Phd, Fabien Moshous Md Phd, Despina
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Published in
Journal of Allergy and Clinical Immunology
Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte-specific protein tyrosine kinase (Lck) is a key component of the TCR signaling machinery. On the basis of its function, we considered LCK a candidate gene in patients with combined immunodeficiency. Objective: We identify and ...
Lemoine, Roxane Pachlopnik-Schmid, Jana Farin, Henner F Bigorgne, Amélie Debré, Marianne Sepulveda, Fernando Héritier, Sébastien Lemale, Julie Talbotec, Cécile Frédéric Rieux-Laucat
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Published in
Journal of Allergy and Clinical Immunology
BACKGROUND: Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases, but the underlying molecular mechanisms remain largely unknown. Studies of monogenic diseases can provide insight into the pathogenesis of IBD. OBJECTIVE:We thought to determine the underlying molecular causes of IBD occurring in 2 unrelated fa...
Brignier, Anne C. Mahlaoui, Nizar Reimann, Christian Picard, Capucine Kracker, Sven de Vergnes, Nathalie Frédéric Rieux-Laucat Frange, Pierre Suarez, Felipe Neven, Bénédicte
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Published in
Journal of Allergy and Clinical Immunology
Magerus-Chatinet, Aude Stolzenberg, Marie-Claude Lanzarotti, Nina Neven, Bénédicte Daussy, Cécile Picard, Capucine Neveux, Nathalie Desai, Mukesh Rao, Meghana Ghosh, Kanjaksha
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Published in
Journal of Allergy and Clinical Immunology
Background: Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphoproliferation, accumulation of double-negative T cells, hypergammaglobulinemia G and A, and autoimmune cytopenia.
Objectives: Although mostly associated with FAS mutations, different genetic defects leading to impaired apoptosis have been de...
Coulter, Tanya I. Chandra, Anita Bacon, Chris M. Babar, Judith Curtis, James Screaton, Nick Goodlad, John R. Farmer, George Steele, Cathal Laurence Leahy, Timothy Ronan
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Published in
Journal of Allergy and Clinical Immunology
Background
Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ).
Objective
We sought to review the clinical, immunologic, histopathologic, and radiologic features o...
Lagresle-Peyrou, Chantal Luce, Sonia Ouchani, Farid Soheili, Tayebeh Shabi Sadek, Hanem Chouteau, Myriam Durand, Amandine Pic, Isabelle Majewski, Jacek Brouzes, Chantal
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Published in
Journal of Allergy and Clinical Immunology
BACKGROUND: We investigated 7 male patients (from 5 different families) presenting with profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, a poor immune response to vaccine antigens, and increased susceptibility to bacterial and varicella zoster virus infections. OBJECTIVE: We sought to characterize the genetic ...
Melki, Isabelle Rose, Yoann Uggenti, Carolina Van Eyck, Lien Frémond, Marie-Louise Kitabayashi, Naoki Rice, Gillian I. Jenkinson, Emma M. Boulai, Anaïs Jeremiah, Nadia
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Published in
Journal of Allergy and Clinical Immunology
With regard to the article in the August 2017 issue entitled “Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling” (J Allergy Clin Immunol 2017;140:543-52), the 12th author Stefano Volpi's name was misspelled as Sefano. He should correctly be listed as Stefano Volpi. The autho...
