Presentation
Scientific Publications
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2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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2023Journal (source)Blood
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
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Journal (source)Proc Natl Acad Sci U S A
Alternative pathways for the development of lymphoid structures in humans.
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2021Journal (source)Haematologica
A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia an...
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2020Journal (source)Nat Commun
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
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Journal (source)J. Allergy Clin. Immunol.
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and a...
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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)JCI Insight
Impaired lymphocyte function and differentiation in CTPS1-deficient patients ...
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2020Journal (source)Blood
Topoisomerase 2β mutation impairs early B-cell development.
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2019Journal (source)Front Immunol
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a N...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
A deep intronic splice mutation of underlies hyper IgE syndrome by negative ...
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2019Journal (source)Blood
Pediatric Evans syndrome is associated with a high frequency of potentially d...
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2018Journal (source)Gastroenterology
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associ...
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2018Journal (source)Nat. Immunol.
Disruption of an antimycobacterial circuit between dendritic and helper T cel...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Incomplete penetrance for isolated congenital asplenia in humans with mutatio...
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2018Journal (source)J. Clin. Immunol.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici...
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2018Journal (source)Sci Immunol
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT...
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Journal (source)J. Allergy Clin. Immunol.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c...
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Journal (source)Orphanet journal of rare diseases
Next generation phenotyping using narrative reports in a rare disease clinica...
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2018Journal (source)J Crohns Colitis
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato...
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2018Journal (source)Front Immunol
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulat...
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2018Journal (source)Clin. Immunol.
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency...
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2017Journal (source)Nature communications
Type I interferon-mediated autoinflammation due to DNase II deficiency.
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2017Journal (source)Hum. Mutat.
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explan...
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2017Journal (source)J. Exp. Med.
Intrinsic antiproliferative activity of the innate sensor STING in T lymphocy...
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2016Journal (source)Haematologica
Evolution of disease activity and biomarkers on and off rapamycin in 28 patie...
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Journal (source)J. Allergy Clin. Immunol.
Exome and genome sequencing for inborn errors of immunity.
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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 Allergy Clin Immunol
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ...
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2015Journal (source)JAMA
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndr...
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2015Journal (source)J. Clin. Invest.
A human immunodeficiency caused by mutations in the PIK3R1 gene.
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2014Journal (source)J. Clin. Invest.
Inherited STING-activating mutation underlies a familial inflammatory syndrom...
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2014Journal (source)Blood
Defective anti-polysaccharide response and splenic marginal zone disorganizat...
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2012Journal (source)Haematologica
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency...
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Journal (source)J. Allergy Clin. Immunol.
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligan...
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2011Journal (source)Blood
A survey of 90 patients with autoimmune lymphoproliferative syndrome related ...
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2010Journal (source)J. Clin. Invest.
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a conseq...
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2010Journal (source)Gastroenterology
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of...
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2009Journal (source)Blood
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are relia...