Presentation
Scientific Publications
-
2023Journal (source)Blood
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
-
2021Journal (source)Haematologica
A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia an...
-
Journal (source)Journal of Allergy Clinical Immunology: In practice 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ...
-
2020Journal (source)J Immunol
Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ...
-
2020Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
-
2020Journal (source)Blood Adv
Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and...
-
2018Journal (source)Nat. Genet.
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculit...
-
Journal (source)J. Allergy Clin. Immunol.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c...
-
2017Journal (source)Blood
Reticular dysgenesis: international survey on clinical presentation, transpla...
-
2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
-
Journal (source)J Allergy Clin Immunol. 2018
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...
-
Journal (source)J. Allergy Clin. Immunol. 2017
Clinical and immunologic phenotype associated with activated phosphoinositide...