Successful RAG1-SCID gene therapy depends on the level of RAG1 expression.
...Published in Journal of Allergy and Clinical Immunology
Published in Journal of Allergy and Clinical Immunology
Published in Journal of Allergy and Clinical Immunology
Published in Journal of Allergy and Clinical Immunology
To the editor
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
Correlation between the nature and location of DCLRE1C mutations, functional activity, and the clinical phenotype has been observed. Hypomorphic variants that have been reported in the general population can be disease causing if combined in trans with a loss-of-function allele. Therapeutic strategies aimed at inducing overexpression of hypomorphic...
Published in Journal of Allergy and Clinical Immunology
Background: The inclusion of severe combined immunodeficiency (SCID) in a Europe-wide screening program is currently debated. Objective: In making a case for inclusion in the French newborn screening program, we explored the costs incurred and potentially saved by early management of SCID. Methods: For test costs, a microcosting study documen...
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 ...
Published in Journal of Allergy and Clinical Immunology
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...
Published in Journal of Allergy and Clinical Immunology
Background: Defects in phagocytic nicotinamide adenine dinucleotide phosphate oxidase 2 (NOX2) function cause chronic granulomatous disease (CGD), a primary immunodeficiency characterized by dysfunctional microbicidal activity and chronic inflammation. Objective: We sought to study the effect of chronic inflammation on the hematopoietic compartm...