Casanova, Jean-Laurent

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

Puel, A., Cypowyj, S., Bustamante, J., Wright, J. F., Liu, L., Lim, H. K., Migaud, M., Israel, L., Chrabieh, M., Audry, M., et al. (2011) · Science

Immunodeficiency and Autoimmune DisordersAntifungal resistance and susceptibility

Cited by 1,056

The European society for immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity

Seidel, M. G., Kindle, G., Gathmann, B., Quinti, I., Buckland, M., van Montfrans, J., Scheible, R., Rusch, S., Gasteiger, L. M., Grimbacher, B., et al. (2019) · The Journal of Allergy and Clinical Immunology In Practice

Immunodeficiency and Autoimmune DisordersBlood disorders and treatments

Cited by 647

Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

Bogunovic, D., Byun, M., Durfee, L. A., Abhyankar, A., Sanal, O., Mansouri, D., Salem, S., Radovanovic, I., Grant, A. V., Adimi, P., et al. (2012) · Science

interferon and immune responsesImmunodeficiency and Autoimmune Disorders

Cited by 572

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Zhang, X., Bogunovic, D., Payelle-Brogard, B., Francois-Newton, V., Speer, S. D., Yuan, C., Volpi, S., Li, Z., Sanal, O., Mansouri, D., et al. (2015) · Nature

interferon and immune responsesInflammasome and immune disorders

Cited by 558

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Barcia, G., Fleming, M. R., Deligniere, A., Gazula, V.-R., Brown, M. R., Langouet, M., Chen, H., Kronengold, J., Abhyankar, A., Cilio, R., et al. (2012) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 525

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

Okada, S., Markle, J. G., Deenick, E. K., Mele, F., Averbuch, D., Lagos, M., Alzahrani, M., Al-Muhsen, S., Halwani, R., Ma, C. S., et al. (2015) · Science

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 413

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Greater Middle East Variome Consortium, Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., et al. (2016) · Nature Genetics

Genomics and Rare DiseasesForensic and Genetic Research

Cited by 376

Parsing the interferon transcriptional network and its disease associations

Mostafavi, S., Yoshida, H., Moodley, D., LeBoité, H., Rothamel, K., Raj, T., Ye, C. J., Chevrier, N., Zhang, S.-Y., Feng, T., et al. (2016) · Cell

interferon and immune responsesCytokine Signaling Pathways and Interactions

Cited by 337

IL-12 and IFN-γ in host defense against mycobacteria and salmonella in mice and men

Jouanguy, E., Döffinger, R., Dupuis, S., Pallier, A., Altare, F., & Casanova, J.-L. (1999) · Current Opinion in Immunology

Tuberculosis Research and EpidemiologyImmune responses and vaccinations

Cited by 331

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

Boisson, B., Wang, C., Pedergnana, V., Wu, L., Cypowyj, S., Rybojad, M., Belkadi, A., Picard, C., Abel, L., Fieschi, C., et al. (2013) · Immunity

Immunodeficiency and Autoimmune DisordersPsoriasis: Treatment and Pathogenesis

Cited by 293

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., et al. (2011) · Nature Immunology

Immunodeficiency and Autoimmune DisordersTuberculosis Research and Epidemiology

Cited by 287

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

Deschamps, M., Laval, G., Fagny, M., Itan, Y., Abel, L., Casanova, J.-L., Patin, E., & Quintana-Murci, L. (2016) · The American Journal of Human Genetics

Evolution and Genetic DynamicsGenetic Associations and Epidemiology

Cited by 257

Human TBK1: A Gatekeeper of Neuroinflammation

Ahmad, L., Zhang, S.-Y., Casanova, J.-L., & Sancho-Shimizu, V. (2016) · Trends in Molecular Medicine

Neuroinflammation and Neurodegeneration MechanismsNF-κB Signaling Pathways

Cited by 208

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Dobbs, K., Domínguez Conde, C., Zhang, S.-Y., Parolini, S., Audry, M., Chou, J., Haapaniemi, E., Keles, S., Bilic, I., Okada, S., et al. (2015) · New England Journal of Medicine

Immunodeficiency and Autoimmune DisordersBlood disorders and treatments

Cited by 201

Evolutionary genetic dissection of human interferons

Manry, J., Laval, G., Patin, E., Fornarino, S., Itan, Y., Fumagalli, M., Sironi, M., Tichit, M., Bouchier, C., Casanova, J.-L., et al. (2011) · Journal of Experimental Medicine

interferon and immune responsesEvolution and Genetic Dynamics

Cited by 176

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

Crequer, A., Troeger, A., Patin, E., Ma, C. S., Picard, C., Pedergnana, V., Fieschi, C., Lim, A., Abhyankar, A., Gineau, L., et al. (2012) · Journal of Clinical Investigation

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 159

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Sharma, M., Leung, D., Momenilandi, M., Jones, L. C. W., Pacillo, L., James, A. E., Murrell, J. R., Delafontaine, S., Maimaris, J., Vaseghi-Shanjani, M., et al. (2023) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersAsthma and respiratory diseases

Cited by 125

IRAK4 Kinase Activity Is Redundant for Interleukin-1 (IL-1) Receptor-associated Kinase Phosphorylation and IL-1 Responsiveness

Qin, J., Jiang, Z., Qian, Y., Casanova, J.-L., & Li, X. (2004) · Journal of Biological Chemistry

NF-κB Signaling PathwaysImmune Response and Inflammation

Cited by 110

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Miot, C., Imai, K., Imai, C., Mancini, A. J., Kucuk, Z. Y., Kawai, T., Nishikomori, R., Ito, E., Pellier, I., Dupuis Girod, S., et al. (2017) · Blood

Immunodeficiency and Autoimmune DisordersHematopoietic Stem Cell Transplantation

Cited by 110

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

Béziat, V., Rapaport, F., Hu, J., Titeux, M., Bonnet des Claustres, M., Bourgey, M., Griffin, H., Bandet, É., Ma, C. S., Sherkat, R., et al. (2021) · Cell

T-cell and B-cell ImmunologyCervical Cancer and HPV Research

Cited by 95

Dimethyl Fumarate Disrupts Human Innate Immune Signaling by Targeting the IRAK4–MyD88 Complex

Zaro, B. W., Vinogradova, E. V., Lazar, D. C., Blewett, M. M., Suciu, R. M., Takaya, J., Studer, S., de la Torre, J. C., Casanova, J.-L., Cravatt, B. F., et al. (2019) · The Journal of Immunology

Immune Response and InflammationNF-κB Signaling Pathways

Cited by 68

Human hyper-IgE syndrome: singular or plural?

Zhang, Q., Boisson, B., Béziat, V., Puel, A., & Casanova, J.-L. (2018) · Mammalian Genome

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 67

Gain-of-glycosylation mutations

Vogt, G., Vogt, B., Chuzhanova, N., Julenius, K., Cooper, D. N., & Casanova, J.-L. (2007) · Current Opinion in Genetics & Development

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 67

Human CRY1 variants associate with attention deficit/hyperactivity disorder

Onat, O. E., Kars, M. E., Gül, Ş., Bilguvar, K., Wu, Y., Özhan, A., Aydın, C., Başak, A. N., Trusso, M. A., Goracci, A., et al. (2020) · Journal of Clinical Investigation

Circadian rhythm and melatoninAttention Deficit Hyperactivity Disorder

Cited by 47