Speckmann, Carsten Doerken, Sam Aiuti, Alessandro Albert, Michael H Al-Herz, Waleed Allende, Luis M Scarselli, Alessia Avcin, Tadej Perez-Becker, Ruy Cancrini, Caterina
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Published in
The Journal of allergy and clinical immunology
Absent T-cell immunity resulting in life-threatening infections provides a clear rationale for hematopoetic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID). Combined immunodeficiencies (CIDs) and "atypical" SCID show reduced, not absent T-cell immunity. If associated with infections or autoimmunity, they re...
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
The Journal of allergy and clinical immunology
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). We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large geneti...
Jabara, Haifa H Ohsumi, Toshiro Chou, Janet Massaad, Michel J Benson, Halli Megarbane, Andre Chouery, Eliane Mikhael, Raymond Gorka, Oliver Gewies, Andreas
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Published in
The Journal of allergy and clinical immunology
Combined immunodeficiency (CID) is characterized by severe recurrent infections with normal numbers of T and B lymphocytes but with deficient cellular and humoral immunity. Most cases are sporadic, but autosomal recessive inheritance has been described. In most cases, the cause of CID remains unknown. We wanted to identify the genetic cause of CID ...
Geha, Raif S Notarangelo, Luigi D Casanova, Jean-Laurent Chapel, Helen Conley, Mary Ellen Fischer, Alain Hammarström, Lennart Nonoyama, Shigeaki Ochs, Hans D Puck, Jennifer M
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Published in
Journal of virology
Primary immunodeficiency diseases (PIDs) are a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system, such as neutrophils, macrophages, dendritic cells, complement proteins, natural killer cells, and T and B lymphocytes. The study of these diseases has provided essential insights into ...
