Successful RAG1-SCID gene therapy depends on the level of RAG1 expression.
...Published in Journal of Allergy and Clinical Immunology
Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transp...
...
Published in Journal of Allergy and Clinical Immunology
Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome (APDS)
...Published in Journal of Allergy and Clinical Immunology
To the editor
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activati...
...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...
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS defi...
...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...
Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effec...
...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...
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency
...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 ...
Early-onset hypogammaglobulinemia: A survey of 44 patients
...Published in Journal of Allergy and Clinical Immunology
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A ...
...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...
Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell function...
...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...
