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Update on the use of immunoglobulin in human disease: A review of evidence
Perez, Elena E., Orange, Jordan S., Bonilla, Francisco, Chinen, Javier, Chinn, Ivan K., Dorsey, Morna, El-Gamal, Yehia, Harville, Terry O., Hossny, Elham, Mazer, Bruce, Nelson, Robert, Secord, Elizabeth, Jordan, Stanley C., Stiehm, E. Richard, Vo, Ashley A., Ballow, Mark
Published in Journal of allergy and clinical immunology (01.03.2017)
Published in Journal of allergy and clinical immunology (01.03.2017)
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PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections
Rider, Nicholas L., Cahill, Gina, Motazedi, Tina, Wei, Lei, Kurian, Ashok, Noroski, Lenora M., Seeborg, Filiz O., Chinn, Ivan K., Roberts, Kirk
Published in PloS one (16.02.2021)
Published in PloS one (16.02.2021)
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Coban-Akdemir, Zeynep, White, Janson J., Song, Xiaofei, Jhangiani, Shalini N., Fatih, Jawid M., Gambin, Tomasz, Bayram, Yavuz, Chinn, Ivan K., Karaca, Ender, Punetha, Jaya, Poli, Cecilia, Boerwinkle, Eric, Shaw, Chad A., Orange, Jordan S., Gibbs, Richard A., Lappalainen, Tuuli, Lupski, James R., Carvalho, Claudia M.B.
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
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FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia
Ghosh, Rajarshi, Bosticardo, Marita, Singh, Sunita, Similuk, Morgan, Delmonte, Ottavia M., Pala, Francesca, Peng, Christine, Jodarski, Colleen, Keller, Michael D., Chinn, Ivan K., Groves, Andrew K., Notarangelo, Luigi D., Walkiewicz, Magdalena A., Chinen, Javier, Bundy, Vanessa
Published in Journal of allergy and clinical immunology (01.12.2022)
Published in Journal of allergy and clinical immunology (01.12.2022)
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Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING
Konno, Hiroyasu, Chinn, Ivan K., Hong, Diana, Orange, Jordan S., Lupski, James R., Mendoza, Alejandra, Pedroza, Luis A., Barber, Glen N.
Published in Cell reports (Cambridge) (24.04.2018)
Published in Cell reports (Cambridge) (24.04.2018)
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Changes in primary lymphoid organs with aging
Chinn, Ivan K., Blackburn, Clare C., Manley, Nancy R., Sempowski, Gregory D.
Published in Seminars in immunology (01.10.2012)
Published in Seminars in immunology (01.10.2012)
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Monoallelic expression can govern penetrance of inborn errors of immunity
Stewart, O’Jay, Gruber, Conor, Randolph, Haley E., Patel, Roosheel, Ramba, Meredith, Calzoni, Enrica, Huang, Lei Haley, Levy, Jay, Buta, Sofija, Lee, Angelica, Sazeides, Christos, Prue, Zoe, Hoytema van Konijnenburg, David P., Chinn, Ivan K., Pedroza, Luis A., Lupski, James R., Schmitt, Erica G., Cooper, Megan A., Puel, Anne, Peng, Xiao, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Okada, Satoshi, Martin-Fernandez, Marta, Orange, Jordan S., Casanova, Jean-Laurent, Milner, Joshua D., Bogunovic, Dusan
Published in Nature (London) (30.01.2025)
Published in Nature (London) (30.01.2025)
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Horesh, Michael E., Martin-Fernandez, Marta, Gruber, Conor, Buta, Sofija, Le Voyer, Tom, Puzenat, Eve, Lesmana, Harry, Wu, Yiming, Richardson, Ashley, Stein, David, Hodeib, Stephanie, Youssef, Mariam, Kurowski, Jacob A., Feuille, Elizabeth, Pedroza, Luis A., Fuleihan, Ramsay L., Haseley, Alexandria, Hovnanian, Alain, Quartier, Pierre, Rosain, Jérémie, Davis, Georgina, Mullan, Daniel, Stewart, O’Jay, Patel, Roosheel, Lee, Angelica E., Rubinstein, Rebecca, Ewald, Leyla, Maheshwari, Nikhil, Rahming, Virginia, Chinn, Ivan K., Lupski, James R., Orange, Jordan S., Sancho-Shimizu, Vanessa, Casanova, Jean-Laurent, Abul-Husn, Noura S., Itan, Yuval, Milner, Joshua D., Bustamante, Jacinta, Bogunovic, Dusan
Published in The Journal of experimental medicine (03.06.2024)
Published in The Journal of experimental medicine (03.06.2024)
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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, Markert, M. Louise
Published in Journal of clinical immunology (01.02.2023)
Published in Journal of clinical immunology (01.02.2023)
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Phenotypic Variability of SOCS1 Haploinsufficiency
Hale, Rebecca C., Owen, Nichole, Yuan, Bo, Chinn, Ivan K.
Published in Journal of clinical immunology (01.07.2023)
Published in Journal of clinical immunology (01.07.2023)
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Chinn, Ivan K., Eckstein, Olive S., Peckham-Gregory, Erin C., Goldberg, Baruch R., Forbes, Lisa R., Nicholas, Sarah K., Mace, Emily M., Vogel, Tiphanie P., Abhyankar, Harshal A., Diaz, Maria I., Heslop, Helen E., Krance, Robert A., Martinez, Caridad A., Nguyen, Trung C., Bashir, Dalia A., Goldman, Jordana R., Stray-Pedersen, Asbjørg, Pedroza, Luis A., Poli, M. Cecilia, Aldave-Becerra, Juan C., McGhee, Sean A., Al-Herz, Waleed, Chamdin, Aghiad, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Cao, Tram N., Hong, Diana N., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., McClain, Kenneth L., Allen, Carl E.
Published in Blood (05.07.2018)
Published in Blood (05.07.2018)
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Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets
Bozkurt-Yozgatli, Tugce, Lun, Ming Yin, Bengtsson, Jesse D., Sezerman, Ugur, Chinn, Ivan K., Coban-Akdemir, Zeynep, Carvalho, Claudia M. B.
Published in European journal of human genetics : EJHG (01.07.2025)
Published in European journal of human genetics : EJHG (01.07.2025)
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Severe Combined Immunodeficiency Disorders
Chinn, Ivan K, Shearer, William T
Published in Immunology and allergy clinics of North America (01.11.2015)
Published in Immunology and allergy clinics of North America (01.11.2015)
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Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
Vargas-Hernández, Alexander, Mace, Emily M., Zimmerman, Ofer, Zerbe, Christa S., Freeman, Alexandra F., Rosenzweig, Sergio, Leiding, Jennifer W., Torgerson, Troy, Altman, Matthew C., Schussler, Edith, Cunningham-Rundles, Charlotte, Chinn, Ivan K., Carisey, Alexandre F., Hanson, Imelda C., Rider, Nicholas L., Holland, Steven M., Orange, Jordan S., Forbes, Lisa R.
Published in Journal of allergy and clinical immunology (01.06.2018)
Published in Journal of allergy and clinical immunology (01.06.2018)
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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder
Keller, Michael D., Pandey, Rahul, Li, Dong, Glessner, Joseph, Tian, Lifeng, Henrickson, Sarah E., Chinn, Ivan K., Monaco-Shawver, Linda, Heimall, Jennifer, Hou, Cuiping, Otieno, Frederick G., Jyonouchi, Soma, Calabrese, Leonard, van Montfrans, Joris, Orange, Jordan S., Hakonarson, Hakon
Published in Journal of allergy and clinical immunology (01.08.2016)
Published in Journal of allergy and clinical immunology (01.08.2016)
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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology
Chinn, Ivan K., Chan, Alice Y., Chen, Karin, Chou, Janet, Dorsey, Morna J., Hajjar, Joud, Jongco, Artemio M., Keller, Michael D., Kobrynski, Lisa J., Kumanovics, Attila, Lawrence, Monica G., Leiding, Jennifer W., Lugar, Patricia L., Orange, Jordan S., Patel, Kiran, Platt, Craig D., Puck, Jennifer M., Raje, Nikita, Romberg, Neil, Slack, Maria A., Sullivan, Kathleen E., Tarrant, Teresa K., Torgerson, Troy R., Walter, Jolan E.
Published in Journal of allergy and clinical immunology (01.01.2020)
Published in Journal of allergy and clinical immunology (01.01.2020)
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CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis
Somekh, Ido, Thian, Marini, Medgyesi, David, Gülez, Nesrin, Magg, Thomas, Gallón Duque, Alejandro, Stauber, Tali, Lev, Atar, Genel, Ferah, Unal, Ekrem, Simon, Amos J., Lee, Yu Nee, Kalinichenko, Artem, Dmytrus, Jasmin, Kraakman, Michael J., Schiby, Ginette, Rohlfs, Meino, Jacobson, Jeffrey M., Özer, Erdener, Akcal, Ömer, Conca, Raffaele, Patiroglu, Türkan, Karakukcu, Musa, Ozcan, Alper, Shahin, Tala, Appella, Eliana, Tatematsu, Megumi, Martinez-Jaramillo, Catalina, Chinn, Ivan K., Orange, Jordan S., Trujillo-Vargas, Claudia Milena, Franco, José Luis, Hauck, Fabian, Somech, Raz, Klein, Christoph, Boztug, Kaan
Published in Blood (31.10.2019)
Published in Blood (31.10.2019)
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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
Cook, Sarah A., Comrie, William A., Poli, M. Cecilia, Similuk, Morgan, Oler, Andrew J., Faruqi, Aiman J., Kuhns, Douglas B., Yang, Sheng, Vargas-Hernández, Alexander, Carisey, Alexandre F., Fournier, Benjamin, Anderson, D. Eric, Price, Susan, Smelkinson, Margery, Abou Chahla, Wadih, Forbes, Lisa R., Mace, Emily M., Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Cuvelier, Geoffrey D. E., Al Hassani, Moza, Al Kaabi, Nawal, Al Yafei, Zain, Jyonouchi, Soma, Raje, Nikita, Caldwell, Jason W., Huang, Yanping, Burkhardt, Janis K., Latour, Sylvain, Chen, Baoyu, ElGhazali, Gehad, Rao, V. Koneti, Chinn, Ivan K., Lenardo, Michael J.
Published in Science (American Association for the Advancement of Science) (10.07.2020)
Published in Science (American Association for the Advancement of Science) (10.07.2020)
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