Presentation
Scientific Publications
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2024
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency., J Clin Immunol
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2023
Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-re..., J Allergy Clin Immunol
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2023
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry..., J Allergy Clin Immunol
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2022
Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy., Clin Gastroenterol Hepatol
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2020
Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
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2018
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c..., J Allergy Clin Immunol
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2018
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K..., Front Immunol
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2017
Finding patients using similarity measures in a rare diseases-oriented clinic..., J Biomed Inform
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2015
A human immunodeficiency caused by mutations in the PIK3R1 gene., J Clin Invest
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2012
Mast cell leukemia: identification of a new c-Kit mutation, dup(501-502), and..., Eur J Haematol
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2010
The enteropathy associated with common variable immunodeficiency: the delinea..., Am J Gastroenterol
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2008
[Current concepts and treatment advances in systemic mastocytosis]., Rev Med Interne