Genetic Basis of Primary Immunodeficiency Disorders

Displaying 1 - 24 of 24CSV
Moreno, C. A. M., Artilheiro, M. C., Fonseca, A. T. Q. S. M., da Silva, A. M. S., Fernandes, T. R., Camelo, C. G., Paiva, M. A., di Pace, F. T., Pessoa, A. L. S., Braga, V. L. L., Mariano, T. C., de Paula Estephan, E., da Penha Morita, M., Covaleski, A. P. P. M., Van der Linden, V., Tomaselli, P. J., Scarpellini, G. R., Gurgel-Giannetti, J., Sobrinho, L. M. F., … Zanoteli, E. (2025). Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort. Scientific Reports, 15(1). https://doi.org/10.1038/s41598-024-84373-5
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Brown, J. R., Li, J., Eichhorst, B., Lamanna, N., O’Brien, S. M., Tam, C. S., Qiu, L., Huang, R., Shi, Y., Idoine, A., Salmi, T., Cohen, A. C., & Shadman, M. (2025). ACQUIRED MUTATIONS IN PATIENTS WITH RELAPSED/REFRACTORY CLL WHO PROGRESSED IN THE ALPINE STUDY. Blood Advances. https://doi.org/10.1182/bloodadvances.2024014206
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Stark, H., Ho, Q. Y., Cross, A., Alessandrini, A., Bertaina, A., Brennan, D., Busque, S., Demetris, A., Devey, L., Fruhwirth, G., Fuchs, E., Friend, P., Geissler, E., Guillonneau, C., Hester, J., Isaacs, J., Jaeckel, E., Kawai, T., Lakkis, F., … Issa, F. (2025). Meeting Report: The Sixth International Sam Strober Workshop on Clinical Immune Tolerance. Transplantation. https://doi.org/10.1097/tp.0000000000005311
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Lessel, I., Baresic, A., Chinn, I. K., May, J., Goenka, A., Chandler, K. E., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., Besnard, T., Brager, R., Brick, L., Brugger, M., Brunet, T., Byrne, S., Calle-Martín, O. de la, Capra, V., Cardenas, P., … Lessel, D. (2025). DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.012
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Modi, D., Chowdhury, S. R., Mahamad, S., Modi, H., Cines, D., Neunert, C., Al-Samkari, H., Cooper, N., Moulis, G., Cunningham-Rundles, C., Liebman, H., Bussel, J. B., Breakey, V. R., Nazy, I., & Arnold, D. M. (2024). Primary Versus Secondary Immune Thrombocytopenia (ITP): A Meeting Report from the 2023 McMaster ITP Summit. Thrombosis and Haemostasis. CLOCKSS. https://doi.org/10.1055/a-2508-1112
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Rosain, J., Le Voyer, T., Liu, X., Gervais, A., Polivka, L., Cederholm, A., Berteloot, L., Parent, A. V., Pescatore, A., Spinosa, E., Minic, S., Kiszewski, A. E., Tsumura, M., Thibault, C., Esnaola Azcoiti, M., Martinovic, J., Philippot, Q., Khan, T., Marchal, A., … Casanova, J.-L. (2024). Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases. Journal of Experimental Medicine, 221(11). https://doi.org/10.1084/jem.20231152
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Kim, T. O., Geris, J. M., Flanagan, J. M., Grace, R. F., Lambert, M. P., O’Farrell, C., Rose, M. J., Shimano, K. A., Niss, O., Neunert, C., Nakano, T. A., MacMath, D., Dinu, B., Kirk, S. E., Neufeld, E. J., Despotovic, J. M., Scheurer, M. E., & Grimes, A. B. (2024). Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia. Blood Advances, 8(21), 5529–5538. https://doi.org/10.1182/bloodadvances.2024012776
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Thompson, Z., Anderson, G. A., Hernandez, M., Alfaro Quinde, C., Marchione, A., Rodriguez, M., Gabriel, S., Binder, V., Taylor, A. M., & Kathrein, K. L. (2024). Ing4-deficiency promotes a quiescent yet transcriptionally poised state in hematopoietic stem cells. IScience, 27(8), 110521. https://doi.org/10.1016/j.isci.2024.110521
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Turk, A. T., & Gudis, D. A. (2024). IgG4-Rich Lesions Associated With Intranasal Drug Use Can Mimic IgG4-Related Disease. Archives of Pathology & Laboratory Medicine. https://doi.org/10.5858/arpa.2023-0474-oa
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Schaefer, F., Al-Dakkak, I., Anokhina, K., Cohen, D., Greenbaum, L. A., & Ariceta, G. (2024). Global aHUS Registry Analysis of Patients Switching to Ravulizumab From Eculizumab. Kidney International Reports. https://doi.org/10.1016/j.ekir.2024.06.020
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McDonnell, J., Cousins, K., Younger, M. E. M., Lane, A., Abolhassani, H., Abraham, R. S., Al-Tamemi, S., Aldave-Becerra, J. C., Al-Faris, E. H., Alfaro-Murillo, A., AlKhater, S. A., Alsaati, N., Doss, A. M. A., Anderson, M., Angarola, E., Ariue, B., Arnold, D. E., Assa’ad, A. H., Aytekin, C., … Marsh, R. (2024). COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report. Journal of Clinical Immunology, 44(4). https://doi.org/10.1007/s10875-023-01613-5
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Schmitz, K. S., Handrejk, K., Liepina, L., Bauer, L., Haas, G. D., van Puijfelik, F., Veldhuis Kroeze, E. J. B., Riekstina, M., Strautmanis, J., Cao, H., Verdijk, R. M., GeurtsvanKessel, C. H., van Boheemen, S., van Riel, D., Lee, B., Porotto, M., de Swart, R. L., & de Vries, R. D. (2024). Functional properties of measles virus proteins derived from a subacute sclerosing panencephalitis patient who received repeated remdesivir treatments. Journal of Virology, 98(3). https://doi.org/10.1128/jvi.01874-23
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Kim, T. O., Geris, J. M., Grimes, A. B., Grace, R. F., Lambert, M. P., Rose, M. J., Shimano, K. A., Niss, O., Neunert, C., Nakano, T. A., Macmath, D., Dinu, B., Kirk, S. E., Despotovic, J. M., Flanagan, J. M., & Scheurer, M. E. (2023). Genetic Variants in Canonical Wnt Signaling Pathway Associated with Pediatric ITP. Blood, 142(Supplement 1), 2593–2593. https://doi.org/10.1182/blood-2023-175013
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Gordon, E., Adeuyan, O., Trager, M., Schreidah, C., Lapolla, B., Fahmy, L., Wesson, K., Magro, C., & Geskin, L. (2023). 212 An un-masking cream: discovery of T-cell dyscrasia after treatment with tapinarof. Journal of Investigative Dermatology, 143(11), S368. https://doi.org/10.1016/j.jid.2023.09.220
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Feng, J., Hsu, P.-F., Esteva, E., Labella, R., Wang, Y., Khodadadi-Jamayran, A., Pucella, J., Liu, C. Z., Arbini, A. A., Tsirigos, A., Kousteni, S., & Reizis, B. (2023). Haplodeficiency of the 9p21 tumor suppressor locus causes myeloid disorders driven by the bone marrow microenvironment. Blood, 142(5), 460–476. https://doi.org/10.1182/blood.2022018512
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Hernandez-Trujillo, V., Zhou, C., Scalchunes, C., Ochs, H. D., Sullivan, K. E., Cunningham-Rundles, C., Fuleihan, R. L., Bonilla, F. A., Petrovic, A., Rawlings, D. J., & de la Morena, M. T. (2023). A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA. Journal of Clinical Immunology, 43(6), 1468–1477. https://doi.org/10.1007/s10875-023-01502-x
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Hussain, A., Acharya, A., Bharadwaj, T., Genomics, U. O. W. C. F. M., Leal, S. M., Khaliq, A., Mir, A., & Schrauwen, I. (2023). A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed Research International, 2023(1). Portico. https://doi.org/10.1155/2023/9993801
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Kamle, A., Patrikar, S., Chaudhary, P., Malpani, P., & Satwani, P. (2023). Pediatric hematopoietic stem cell transplantation- Experience from a center in central India. Pediatric Hematology Oncology Journal, 8(4), S78. https://doi.org/10.1016/j.phoj.2023.10.198
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Salinas, S. A., Mace, E. M., Conte, M. I., Park, C. S., Li, Y., Rosario-Sepulveda, J. I., Mahapatra, S., Moore, E. K., Hernandez, E. R., Chinn, I. K., Reed, A. E., Lee, B. J., Frumovitz, A., Gibbs, R. A., Posey, J. E., Forbes Satter, L. R., Thatayatikom, A., Allenspach, E. J., Wensel, T. G., … Orange, J. S. (2022). An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight, 7(23). https://doi.org/10.1172/jci.insight.155481
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Esplin, I., Huang, Y., Bhat, S. A., Grantier, C., Grever, M. R., Hoffman, C., Kittai, A. S., Lucas, M. S., Moran, M. E., Reid, M., Suresh, S., Woyach, J. A., & Rogers, K. A. (2022). Treatment of CLL-Associated Autoimmune Cytopenias and Outcomes in a Single Institution Cohort Study. Blood, 140(Supplement 1), 4166–4168. https://doi.org/10.1182/blood-2022-167314
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Conte, M. I., Poli, M. C., Taglialatela, A., Leuzzi, G., Chinn, I. K., Salinas, S. A., Rey-Jurado, E., Olivares, N., Veramendi-Espinoza, L., Ciccia, A., Lupski, J. R., Aldave Becerra, J. C., Mace, E. M., & Orange, J. S. (2022). Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight, 7(21). https://doi.org/10.1172/jci.insight.154948
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Gold, J. A. W., Tolu, S. S., Chiller, T., Benedict, K., & Jackson, B. R. (2021). Incidence of Invasive Fungal Infections in Patients Initiating Ibrutinib and Other Small Molecule Kinase Inhibitors—United States, July 2016–June 2019. Clinical Infectious Diseases, 75(2), 334–337. https://doi.org/10.1093/cid/ciab1026
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El-Sayed, Z. A., El-Ghoneimy, D. H., Ortega-Martell, J. A., Radwan, N., Aldave, J. C., Al-Herz, W., Al-Nesf, M. A., Condino-Neto, A., Cole, T., Eley, B., Erwa, N. H. H., Espinosa-Padilla, S., Faria, E., Rosario Filho, N. A., Fuleihan, R., Galal, N., Garabedian, E., Hintermeyer, M., Imai, K., … Sullivan, K. (2022). Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study. World Allergy Organization Journal, 15(6), 100657. https://doi.org/10.1016/j.waojou.2022.100657
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