Publications scientifiques
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2020Journal (source)J Immunol
Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ...
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2020Journal (source)J Pediatr
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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2020Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2020Journal (source)J. Pediatr.
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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2020Journal (source)Blood
Topoisomerase 2β mutation impairs early B-cell development.
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2019Journal (source)J. Exp. Med.
Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr...
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2019Journal (source)J. Clin. Invest.
Loss of ARHGEF1 causes a human primary antibody deficiency.
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2018Journal (source)Haematologica
Mutations in the adaptor-binding domain and associated linker region of p110δ...
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2018Journal (source)Front Immunol
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...
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2018Journal (source)Front Immunol
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...
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Journal (source)Journal of biomedical informatics
Finding patients using similarity measures in a rare diseases-oriented clinic...
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2017Journal (source)J Allergy Clin Immunol
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...
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Journal (source)J Allergy Clin Immunol. 2018
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...
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Journal (source)J. Allergy Clin. Immunol.
X-linked primary immunodeficiency associated with hemizygous mutations in the...
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Journal (source)J. Allergy Clin. Immunol. 2017
Clinical and immunologic phenotype associated with activated phosphoinositide...
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2015Journal (source)J. Clin. Invest.
A human immunodeficiency caused by mutations in the PIK3R1 gene.
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Journal (source)Science Immunology
A multimorphic mutation in IRF4 causes human autosomal dominant combined immu...