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PD-1 signaling in neonates restrains CD8+ T cell function and protects against respiratory viral immunopathology.
Eddens T, Parks OB, Zhang Y, Manni ML, Casanova JL, Ogishi M, Williams JV. Eddens T, et al. Among authors: casanova jl. Mucosal Immunol. 2024 Jan 3:S1933-0219(23)00100-9. doi: 10.1016/j.mucimm.2023.12.004. Online ahead of print. Mucosal Immunol. 2024. PMID: 38176655 Free article.
Pdcd1(-/-) neonates had increased acute pathology with HMPV or influenza. Pdcd1(-/-) neonates infected with HMPV had long-term changes in pulmonary physiology with evidence of immunopathology and a persistent CD8(+) T-cell response with increased granzyme B production. ...
Pdcd1(-/-) neonates had increased acute pathology with HMPV or influenza. Pdcd1(-/-) neonates infected with HMPV had long-term change …
Human genetic and immunological determinants of SARS-CoV-2 and Epstein-Barr virus diseases in childhood: Insightful contrasts.
Pan-Hammarström Q, Casanova JL. Pan-Hammarström Q, et al. Among authors: casanova jl. J Intern Med. 2023 Aug;294(2):127-144. doi: 10.1111/joim.13628. Epub 2023 Mar 26. J Intern Med. 2023. PMID: 36906905 Review.
By contrast, various forms of severe EBV disease, ranging from acute hemophagocytosis to chronic or long-term illnesses, such as agammaglobulinemia and lymphoma, can manifest in children with inborn errors disrupting specific molecular bridges involved in the control of EB …
By contrast, various forms of severe EBV disease, ranging from acute hemophagocytosis to chronic or long-term illnesses, such as agam …
The intersection of COVID-19 and autoimmunity.
Knight JS, Caricchio R, Casanova JL, Combes AJ, Diamond B, Fox SE, Hanauer DA, James JA, Kanthi Y, Ladd V, Mehta P, Ring AM, Sanz I, Selmi C, Tracy RP, Utz PJ, Wagner CA, Wang JY, McCune WJ. Knight JS, et al. Among authors: casanova jl. J Clin Invest. 2021 Dec 15;131(24):e154886. doi: 10.1172/JCI154886. J Clin Invest. 2021. PMID: 34710063 Free PMC article. Review.
Acute COVID-19, caused by SARS-CoV-2, is characterized by diverse clinical presentations, ranging from asymptomatic infection to fatal respiratory failure, and often associated with varied longer-term sequelae. Over the past 18 months, it has become apparent that inappropr …
Acute COVID-19, caused by SARS-CoV-2, is characterized by diverse clinical presentations, ranging from asymptomatic infection to fatal respi …
Human hyper-IgE syndrome: singular or plural?
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL. Zhang Q, et al. Among authors: casanova jl. Mamm Genome. 2018 Aug;29(7-8):603-617. doi: 10.1007/s00335-018-9767-2. Epub 2018 Aug 9. Mamm Genome. 2018. PMID: 30094507 Free PMC article. Review.
We review here the history of the field of HIES since the first clinical description of this condition in 1966, together with the three disorders commonly referred to as HIES, focusing, in particular, on their mouse models. We propose the restriction of the term "HIES" to …
We review here the history of the field of HIES since the first clinical description of this condition in 1966, together with the three diso …
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.
Della Mina E, Borghesi A, Zhou H, Bougarn S, Boughorbel S, Israel L, Meloni I, Chrabieh M, Ling Y, Itan Y, Renieri A, Mazzucchelli I, Basso S, Pavone P, Falsaperla R, Ciccone R, Cerbo RM, Stronati M, Picard C, Zuffardi O, Abel L, Chaussabel D, Marr N, Li X, Casanova JL, Puel A. Della Mina E, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E514-E523. doi: 10.1073/pnas.1620139114. Epub 2017 Jan 9. Proc Natl Acad Sci U S A. 2017. PMID: 28069966 Free PMC article.
By contrast, the patient's peripheral blood mononuclear cells responded normally to all TLR1/2, TLR2/6, TLR4, TLR7, and TLR8 (R848) agonists tested, and to IL-1beta. The death of this child precluded long-term evaluations of the clinical consequences of inherited IRAK-1 de …
By contrast, the patient's peripheral blood mononuclear cells responded normally to all TLR1/2, TLR2/6, TLR4, TLR7, and TLR8 (R848) agonists …
Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.
Frange P, Leruez-Ville M, Neven B, Mascard L, Moshous D, Touzot F, Heritier S, Chaix ML, Cavazzana M, Casanova JL, Fischer A, Blanche S. Frange P, et al. Among authors: casanova jl. Eur J Clin Microbiol Infect Dis. 2014 Apr;33(4):545-50. doi: 10.1007/s10096-013-1982-x. Epub 2013 Sep 28. Eur J Clin Microbiol Infect Dis. 2014. PMID: 24078025
Scarce data exist on allogeneic hematopoietic stem cell transplantation (HSCT) outcomes in hepatitis B virus (HBV)-naive recipients from HBV-experienced donors. Long-term follow-up is herein reported for 17 allogeneic HSCT performed in 13 HBV-naive children from HBc-antibo …
Scarce data exist on allogeneic hematopoietic stem cell transplantation (HSCT) outcomes in hepatitis B virus (HBV)-naive recipients from HBV …
Definition of primary immunodeficiency in 2011: a "trialogue" among friends.
Conley ME, Notarangelo LD, Casanova JL. Conley ME, et al. Among authors: casanova jl. Ann N Y Acad Sci. 2011 Nov;1238:1-6. doi: 10.1111/j.1749-6632.2011.06212.x. Ann N Y Acad Sci. 2011. PMID: 22129047
There is no clear consensus about the definition of the term primary immunodeficiency in 2011. Although there is general agreement that defects in both adaptive and innate immunity should be included, issues related to the frequency of primary immunodeficiencies, the modes …
There is no clear consensus about the definition of the term primary immunodeficiency in 2011. Although there is general agreement th …
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernández-Pérez L, Chapgier A, Cárdenes M, Feinberg J, García-Laorden MI, Picard C, Santiago E, Kong X, Jannière L, Colino E, Herrera-Ramos E, Francés A, Navarrete C, Blanche S, Faria E, Remiszewski P, Cordeiro A, Freeman A, Holland S, Abarca K, Valerón-Lemaur M, Gonçalo-Marques J, Silveira L, García-Castellano JM, Caminero J, Pérez-Arellano JL, Bustamante J, Abel L, Casanova JL, Rodríguez-Gallego C. Sologuren I, et al. Among authors: casanova jl. Hum Mol Genet. 2011 Apr 15;20(8):1509-23. doi: 10.1093/hmg/ddr029. Epub 2011 Jan 25. Hum Mol Genet. 2011. PMID: 21266457 Free PMC article.
Thirteen patients survived until the age of 14.82 11.2 years, and one patient died at the age of 7 years, 9 days after the diagnosis of long-term Mycobacterium avium infection and the initiation of antimycobacterial treatment. ...
Thirteen patients survived until the age of 14.82 11.2 years, and one patient died at the age of 7 years, 9 days after the diagnosis of long …
The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.
Averbuch D, Chapgier A, Boisson-Dupuis S, Casanova JL, Engelhard D. Averbuch D, et al. Among authors: casanova jl. Pediatr Infect Dis J. 2011 Apr;30(4):352-5. doi: 10.1097/INF.0b013e3181fdff4a. Pediatr Infect Dis J. 2011. PMID: 20962705
STAT-1 (Signal Transducer and Activator of Transcription-1) is a key signaling component of interferon gamma responses. We present long-term manifestations in siblings with a mutation in the STAT1 gene, which include invasive salmonellosis, recurrent severe respiratory syn …
STAT-1 (Signal Transducer and Activator of Transcription-1) is a key signaling component of interferon gamma responses. We present long-t …
Efficacy of gene therapy for X-linked severe combined immunodeficiency.
Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, Martinache C, Rieux-Laucat F, Latour S, Belohradsky BH, Leiva L, Sorensen R, Debré M, Casanova JL, Blanche S, Durandy A, Bushman FD, Fischer A, Cavazzana-Calvo M. Hacein-Bey-Abina S, et al. Among authors: casanova jl. N Engl J Med. 2010 Jul 22;363(4):355-64. doi: 10.1056/NEJMoa1000164. N Engl J Med. 2010. PMID: 20660403 Free PMC article.
BACKGROUND: The outcomes of gene therapy to correct congenital immunodeficiencies are unknown. We reviewed long-term outcomes after gene therapy in nine patients with X-linked severe combined immunodeficiency (SCID-X1), which is characterized by the absence of the cytokine …
BACKGROUND: The outcomes of gene therapy to correct congenital immunodeficiencies are unknown. We reviewed long-term outcomes after g …
14 results