Notarangelo, Luigi D.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

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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

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

A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency

Hacein-Bey-Abina, S., Pai, S.-Y., Gaspar, H. B., Armant, M., Berry, C. C., Blanche, S., Bleesing, J., Blondeau, J., de Boer, H., Buckland, K. F., et al. (2014) · New England Journal of Medicine

Virus-based gene therapy researchImmunodeficiency and Autoimmune Disorders

Cited by 412

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

Guerrini, M. M., Sobacchi, C., Cassani, B., Abinun, M., Kilic, S. S., Pangrazio, A., Moratto, D., Mazzolari, E., Clayton-Smith, J., Orchard, P., et al. (2008) · The American Journal of Human Genetics

Bone Metabolism and DiseasesImmunodeficiency and Autoimmune Disorders

Cited by 309

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Jabara, H. H., Boyden, S. E., Chou, J., Ramesh, N., Massaad, M. J., Benson, H., Bainter, W., Fraulino, D., Rahimov, F., Sieff, C., et al. (2016) · Nature Genetics

Iron Metabolism and DisordersImmunodeficiency and Autoimmune Disorders

Cited by 279

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

Burberry, A., Suzuki, N., Wang, J.-Y., Moccia, R., Mordes, D. A., Stewart, M. H., Suzuki-Uematsu, S., Ghosh, S., Singh, A., Merkle, F. T., et al. (2016) · Science Translational Medicine

Amyotrophic Lateral Sclerosis ResearchT-cell and B-cell Immunology

Cited by 269

Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

Sacco, K., Castagnoli, R., Vakkilainen, S., Liu, C., Delmonte, O. M., Oguz, C., Kaplan, I. M., Alehashemi, S., Burbelo, P. D., Bhuyan, F., et al. (2022) · Nature Medicine

Kawasaki Disease and Coronary ComplicationsCOVID-19 Clinical Research Studies

Cited by 247

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

Aberrant type 1 immunity drives susceptibility to mucosal fungal infections.

Break, T. J., Oikonomou, V., Dutzan, N., Desai, J. V., Swidergall, M., Freiwald, T., Chauss, D., Harrison, O. J., Alejo, J., Williams, D. W., et al. (2021) · Science

Immunodeficiency and Autoimmune DisordersAntifungal resistance and susceptibility

Cited by 175

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

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Kolhatkar, N. S., Brahmandam, A., Thouvenel, C. D., Becker-Herman, S., Jacobs, H. M., Schwartz, M. A., Allenspach, E. J., Khim, S., Panigrahi, A. K., Luning Prak, E. T., et al. (2015) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 76

Gut Microbiota–Host Interactions in Inborn Errors of Immunity

Castagnoli, R., Pala, F., Bosticardo, M., Licari, A., Delmonte, O. M., Villa, A., Marseglia, G. L., & Notarangelo, L. D. (2021) · International Journal of Molecular Sciences

Gut microbiota and healthImmunodeficiency and Autoimmune Disorders

Cited by 34