Presentation
Resources & publications
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form ...
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2017Journal (source)J. Exp. Med.
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
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2019Journal (source)Nat. Med.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 a...
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2019Journal (source)Sci Immunol
Chronic mucocutaneous candidiasis and connective tissue disorder in humans wi...
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2019Journal (source)Open Forum Infect Dis
Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Geno...
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2019Journal (source)Nat. Med.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 a...
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2019Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form ...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by nega...
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2019Journal (source)J. Exp. Med.
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reacti...
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2019Journal (source)J. Exp. Med.
Severe influenza pneumonitis in children with inherited TLR3 deficiency.
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2019Journal (source)J. Exp. Med.
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
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2019Journal (source)Curr. Opin. Immunol.
Human inborn errors of immunity to infection affecting cells other than leuko...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Blacklisting variants common in private cohorts but not in public databases o...
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2019Journal (source)Sci Immunol
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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2019Journal (source)Sci Immunol
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
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2019Journal (source)J. Clin. Invest.
Rescue of recurrent deep intronic mutation underlying cell type-dependent qua...
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2019Journal (source)Hum. Mol. Genet.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ...
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2019Journal (source)J. Exp. Med.
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficie...
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2019Journal (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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2019Journal (source)J. Exp. Med.
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to...
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2019Journal (source)Sci Immunol
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT...
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2019Journal (source)J. Clin. Immunol.
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacte...
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2019Journal (source)J. Clin. Invest.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
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2019Journal (source)Cell
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
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2019Journal (source)Am. J. Med. Genet. A
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate...
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2017Journal (source)J. Am. Coll. Cardiol.
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.
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Journal (source)J. Allergy Clin. Immunol.
Exome and genome sequencing for inborn errors of immunity.
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2019Journal (source)Elife
IRF4 haploinsufficiency in a family with Whipple's disease.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Common homozygosity for predicted loss-of-function variants reveals both redu...
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2020Journal (source)J. Pediatr.
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2011Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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2021Journal (source)J Exp Med
Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever...
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2015Journal (source)Nat Genet
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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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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2020Journal (source)J Pediatr
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)Nat Med
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
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2021Journal (source)Med (N Y)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...
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2022Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
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2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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2018Journal (source)J Allergy Clin Immunol
Epithelial barrier dysfunction in desmoglein-1 deficiency.
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2024Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...