Published in Journal of Allergy and Clinical Immunology
Background: Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation. Objective: We aimed at determining the incidence of autoimmunity and inflammation...
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...
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...
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...
Published in Journal of Allergy and Clinical Immunology
No abstract available
Published in Journal of Allergy and Clinical Immunology
Background: Most children with primary immunodeficiencies (PIDs) now reach adulthood. However, few studies have evaluated their health status and health-related quality of life (HRQoL). Objective: To investigate long-term morbidity, the French Reference Center for PIDs initiated a prospective multicenter cohort: the French Childhood Immune Defic...
Published in Journal of Allergy and Clinical Immunology
Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex. From the first year of life onward, most affected patients display multiple, severe, and recurrent infections caused by bacteria and fungi. Mycobacterial infections ...
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...
Published in Journal of Allergy and Clinical Immunology
Letter to the editor
Published in Journal of Allergy and Clinical Immunology
