Presentation
Resources & publications
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Journal (source)The lancet rheumatology 2020Contribution of rare and predicted pathogenic gene variants to childhood-onse...
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Journal (source)J. Allergy Clin. Immunol.
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and au...
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2020Journal (source)JCI Insight
Impaired lymphocyte function and differentiation in CTPS1-deficient patients ...
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2020Journal (source)Blood
Primary immunodeficiencies reveal the molecular requirements for effective ho...
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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)Immunol. Rev.
Signaling pathways involved in the T-cell-mediated immunity against Epstein-B...
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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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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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2020Journal (source)Gastroenterology
Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signalin...
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2020Journal (source)Gastroenterology
Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signalin...
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2021Journal (source)Nat Commun
Transient mTOR inhibition rescues 4-1BB CAR-Tregs from tonic signal-induced d...
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2021Journal (source)Curr Opin Immunol
Immunity to EBV as revealed by immunedeficiencies.