M. Chrabieh

发表

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

A. Fischer, J. Casanova, C. Picard, 2008, The Journal of experimental medicine.

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

J. Banchereau, D. Chaussabel, J. Casanova, 2003, Science.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

M. Hernandez, J. Casanova, M. Temsah, 2020, Cell reports.

Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway

L. Abel, J. Manry, L. Marsollier, 2020, Communications Biology.

Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway

L. Abel, J. Manry, L. Marsollier, 2020, Communications Biology.

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

J. Casanova, J. Uitto, L. Abel, 2022, The Journal of experimental medicine.

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

J. Casanova, A. Bousfiha, S. Ehl, 2022, The Journal of experimental medicine.

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

B. Pulendran, J. Casanova, S. Seligman, 2021, The Journal of experimental medicine.

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

J. Casanova, O. Ohara, M. Hagiwara, 2018, The Journal of clinical investigation.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

A. Fischer, C. Bodemer, J. Casanova, 2011, The Journal of experimental medicine.

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

J. Casanova, C. Picard, S. Tangye, 2019, Proceedings of the National Academy of Sciences.

Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity

Douglas R. McDonald, A. Al-ghonaium, Sami Al-Hajjar, 2007, The Journal of experimental medicine.

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

J. Casanova, A. Bousfiha, C. Picard, 2021, The Journal of experimental medicine.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

J. Casanova, S. Boughorbel, S. Tangye, 2019, Science Immunology.

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

C. Bodemer, J. Casanova, C. Picard, 2011, Science.

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

D. Chaussabel, J. Casanova, S. Boughorbel, 2017, Proceedings of the National Academy of Sciences.

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Douglas R. McDonald, A. Al-ghonaium, Sami Al-Hajjar, 2010 .

A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling

J. Casanova, C. Picard, H. von Bernuth, 2006, Pediatrics.

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients.

J. Casanova, C. Picard, E. Meffre, 2012, Blood.

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

A. Smahi, C. Bodemer, A. Munnich, 2011, The New England journal of medicine.

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

D. Chaussabel, J. Casanova, C. Picard, 2017, Cell.

Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

V. Pascual, D. Chaussabel, J. Casanova, 2012, Nature Immunology.

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

J. Casanova, C. Wouters, L. Notarangelo, 2022, Science.

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

J. Casanova, M. Glickman, J. Wolchok, 2021, Nature Medicine.

Invasive pneumococcal disease in children can reveal a primary immunodeficiency.

J. Casanova, C. Picard, B. Boisson, 2014, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

J. Casanova, L. Notarangelo, E. Crestani, 2016, The Journal of experimental medicine.

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.

A. Fischer, C. Bodemer, J. Casanova, 2011, Blood.

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

J. Casanova, L. Notarangelo, C. Picard, 2015, The Journal of experimental medicine.

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

A. Fischer, R. Döffinger, C. Bodemer, 2010, The Journal of experimental medicine.

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Carol J. Saunders, J. Casanova, C. Saunders, 2021, The Journal of experimental medicine.

Recurrent Staphylococcal Cellulitis and Subcutaneous Abscesses in a Child with Autoantibodies against IL-61

J. Casanova, C. Picard, A. Puel, 2008, The Journal of Immunology.

Genome-wide association study of Buruli ulcer in rural Benin

L. Abel, J. Manry, L. Marsollier, 2019 .

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

J. Casanova, D. Weil, N. Boddaert, 2021, Proceedings of the National Academy of Sciences.

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Douglas R. McDonald, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Autoantibodies against IL-6 Subcutaneous Abscesses in a Child with Recurrent Staphylococcal Cellulitis and

J. Casanova, C. Picard, A. Puel, 2007 .

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

C. Bodemer, J. Casanova, C. Picard, 2011, Science.

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Douglas R. McDonald, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Br Ief Definitive Repor T Autoantibodies against Il-17a, Il-17f, and Il-22 in Patients with Chronic Mucocutaneous Candidiasis and Autoimmune Polyendocrine Syndrome Type I Most Patients with Autoimmune Polyendocrine Syndrome Type I (aps-i) Display Chronic Mucocu- Taneous Candidiasis (cmc). We Hypothe

A. Fischer, R. Döffinger, C. Bodemer, 2022 .

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.

J. Casanova, C. Picard, Jens C. Krause, 2009, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

J. Casanova, C. Picard, B. Boisson, 2017, Front. Pediatr..

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

D. Chaussabel, J. Casanova, C. Picard, 2017, Cell.

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

A. Munnich, C. Picard, G. Pinto, 2016, American journal of human genetics.