A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency
Lougaris, Vassilios, Chou, Janet, Beano, Abdallah, Wallace, Jacqueline G., Baronio, Manuela, Gazzurelli, Luisa, Lorenzini, Tiziana, Moratto, Daniele, Tabellini, Giovanna, Parolini, Silvia, Seleman, Michael, Stafstrom, Kelsey, Xu, Haiming, Harris, Chad, Geha, Raif S., Plebani, Alessandro
Published in Journal of allergy and clinical immunology (01.04.2019)
Published in Journal of allergy and clinical immunology (01.04.2019)
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Journal Article
Immune dysregulation caused by homozygous mutations in CBLB
Janssen, Erin, Peters, Zachary, Alosaimi, Mohammed F, Smith, Emma, Milin, Elena, Stafstrom, Kelsey, Wallace, Jacqueline G, Platt, Craig D, Chou, Janet, Ansari, Yasmeen S. El, Farsi, Tariq Al, Ameziane, Najim, Al-Ali, Ruslan, Calvo, Maria, Rocha, Maria Eugenia, Bauer, Peter, Al-Sannaa, Nouriya Abbas, Sukaiti, Nashat Faud Al, Alangari, Abdullah A, Bertoli-Avella, Aida M, Geha, Raif S
Published in The Journal of clinical investigation (15.10.2022)
Published in The Journal of clinical investigation (15.10.2022)
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Journal Article
Gun violence and the voices of youth on community safety in the time of COVID-19 in East Harlem, NY: a youth participatory action research cross-sectional study
Wallace, Jacqueline G, Chernet, Rachel, Formica, Margaret K, Adeonigbagbe, Olusola, Flores, Roseanne L, Marchesani, Robert, Goldberg, Danielle, Wridt, Pamela, Laraque-Arena, Danielle
Published in Injury epidemiology (12.07.2023)
Published in Injury epidemiology (12.07.2023)
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Journal Article
Engaging East Harlem, New York youth in action gun violence prevention research and child rights: a preliminary study
Malla, Pallavi, Fray, Nakesha, Formica, Margaret K, Goldberg, Danielle, Marchesani, Robert, Hennessy, Patricia, Ervine, Moshay, Wallace, Jacqueline G, Larson, Elaine, Wridt, Pamela, Laraque-Arena, Danielle
Published in Injury epidemiology (21.11.2023)
Published in Injury epidemiology (21.11.2023)
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Journal Article
ITK deficiency presenting as autoimmune lymphoproliferative syndrome
Wallace, Jacqueline G., Alosaimi, Mohammed F., Khayat, Claudia Djambas, Jaber, Faris, Almutairi, Abduarahman, Beaussant-Cohen, Sarah, Pinkus, Geraldine, Fleming, Mark, Mehawej, Cybel, Chou, Janet, Geha, Raif S.
Published in Journal of allergy and clinical immunology (01.02.2021)
Published in Journal of allergy and clinical immunology (01.02.2021)
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Journal Article
Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant
Cohen, Sarah Beaussant, Bainter, Wayne, Johnson, Jared L., Lin, Ting-Yu, Wong, Jenny C.Y., Wallace, Jacqueline G., Jones, Jennifer, Qureshi, Sonia, Mir, Fatima, Qamar, Farah, Cantley, Lewis C., Geha, Raif S., Chou, Janet
Published in Journal of allergy and clinical immunology (01.02.2019)
Published in Journal of allergy and clinical immunology (01.02.2019)
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Journal Article
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex
Bainter, Wayne, Platt, Craig D, Park, Seung-Yeol, Stafstrom, Kelsey, Wallace, Jacqueline G, Peters, Zachary T, Massaad, Michel J, Becuwe, Michel, Salinas, Sandra Andrea, Jones, Jennifer, Beaussant-Cohen, Sarah, Jaber, Faris, Yang, Jia-Shu, Walther, Tobias C, Orange, Jordan S, Rao, Chitong, Rakoff-Nahoum, Seth, Tsokos, Maria, Naseem, Shafiq Ur Rehman, Al-Tamemi, Salem, Chou, Janet, Hsu, Victor W, Geha, Raif S
Published in The Journal of clinical investigation (01.02.2021)
Published in The Journal of clinical investigation (01.02.2021)
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Journal Article
A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation
Platt, Craig D., Zaman, Fatima, Wallace, Jacqueline G., Seleman, Michael, Chou, Janet, Al Sukaiti, Nashat, Geha, Raif S.
Published in Clinical immunology (Orlando, Fla.) (01.10.2019)
Published in Clinical immunology (Orlando, Fla.) (01.10.2019)
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Journal Article
Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency
Almutairi, Abduarahman, Wallace, Jacqueline G., Jaber, Faris, Alosaimi, Mohammed F., Jones, Jennifer, Sallam, Mohamed T.H., Elnagdy, M.H., Chou, Janet, Sobh, Ali, Geha, Raif S.
Published in Journal of allergy and clinical immunology (01.06.2020)
Published in Journal of allergy and clinical immunology (01.06.2020)
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Journal Article
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects
Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tomas, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G., Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D., Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D.
Published in Journal of allergy and clinical immunology (01.06.2019)
Published in Journal of allergy and clinical immunology (01.06.2019)
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Journal Article
Dysregulated actin dynamics in activated PI3Kδ syndrome
Wallace, Jacqueline G., Zambrano-Rodas, Pedro, Córdova-Calderón, Wilmer, Estrada-Turriate, Santiago, Mendoza-Quispe, Daniel, Limache Ontiveros, Yesenia, Geha, Raif S., Chou, Janet, Platt, Craig D.
Published in Clinical immunology (Orlando, Fla.) (01.01.2020)
Published in Clinical immunology (Orlando, Fla.) (01.01.2020)
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Journal Article
Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan
Wallace, Jacqueline G., Tipu, Hamid Nawaz, Stafstrom, Kelsey, Alosaimi, Mohammed F., Massaad, Michel J., Bainter, Wayne, Geha, Raif S., Chou, Janet
Published in Clinical immunology (Orlando, Fla.) (01.05.2019)
Published in Clinical immunology (Orlando, Fla.) (01.05.2019)
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Journal Article
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection
Radwan, Nesrine, El-Owaidy, Rasha, El-Sayed, Zeinab A., Abdel-Baky, Ashraf, El-Haddad, Alaa, Rashad, Hanaa, Khorshed, Eman Naguib, Platt, Craig D., Wallace, Jacqueline G., Chou, Janet, Hossny, Elham, Reda, Shereen Medhat
Published in Journal of clinical immunology (01.05.2020)
Published in Journal of clinical immunology (01.05.2020)
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Journal Article
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)
Bainter, Wayne, Lougaris, Vassilios, Wallace, Jacqueline G, Badran, Yousef, Hoyos-Bachiloglu, Rodrigo, Peters, Zachary, Wilkie, Hazel, Das, Mrinmoy, Janssen, Erin, Beano, Abdallah, Farhat, Khaoula Ben, Kam, Christy, Bercich, Luisa, Incardona, Paolo, Villanacci, Vincenzo, Bondioni, Maria Pia, Meini, Antonella, Baronio, Manuela, Abarzua, Phammela, Parolini, Silvia, Tabellini, Giovanna, Maio, Stefano, Schmidt, Birgitta, Goldsmith, Jeffrey D, Murphy, George, Hollander, Georg, Plebani, Alessandro, Chou, Janet, Geha, Raif S
Published in Science immunology (17.09.2021)
Published in Science immunology (17.09.2021)
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Journal Article
Combined immunodeficiency due to a mutation in the [gamma]1 subunit of the coat protein I complex
Bainter, Wayne, Platt, Craig D, Park, Seung-Yeol, Stafstrom, Kelsey, Wallace, Jacqueline G, Peters, Zachary T, Massaad, Michel J, Becuwe, Michel, Salinas, Sandra Andrea, Jones, Jennifer, Beaussant-Cohen, Sarah, Jaber, Faris, Yang, Jia-Shu, Walther, Tobias C, Orange, Jordan S, Rao, Chitong, Rakoff-Nahoum, Seth, Tsokos, Maria, Naseem, Shafiq Ur Rehman, Al-Tamemi, Salem, Chou, Janet, Hsu, Victor W, Geha, Raif S
Published in The Journal of clinical investigation (01.02.2021)
Published in The Journal of clinical investigation (01.02.2021)
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Journal Article
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in humans
Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tom, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G., Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D., Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D.
Published in Journal of allergy and clinical immunology (26.02.2019)
Published in Journal of allergy and clinical immunology (26.02.2019)
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Journal Article
ITK deficiency presenting as autoimmune lymphoproliferative syndrome
Wallace, Jacqueline G, Alosaimi, Mohammed F, Khayat, Claudia Djambas, Jaber, Faris, Almutairi, Abduarahman, Beaussant-Cohen, Sarah, Pinkus, Geraldine, Fleming, Mark, Mehawej, Cybel, Chou, Janet, Geha, Raif S
Published in The Journal of allergy and clinical immunology (01.02.2021)
Published in The Journal of allergy and clinical immunology (01.02.2021)
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A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection
Radwan, Nesrine, El-Owaidy, Rasha, El-Sayed, Zeinab A, Abdel-Baky, Ashraf, El-Haddad, Alaa, Rashad, Hanaa, Khorshed, Eman Naguib, Platt, Craig D, Wallace, Jacqueline G, Chou, Janet, Hossny, Elham, Reda, Shereen Medhat
Published in Journal of clinical immunology (01.05.2020)
Published in Journal of clinical immunology (01.05.2020)
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A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency
Lougaris, Vassilios, Chou, Janet, Beano, Abdallah, Wallace, Jacqueline G, Baronio, Manuela, Gazzurelli, Luisa, Lorenzini, Tiziana, Moratto, Daniele, Tabellini, Giovanna, Parolini, Silvia, Seleman, Michael, Stafstrom, Kelsey, Xu, Haiming, Harris, Chad, Geha, Raif S, Plebani, Alessandro
Published in The Journal of allergy and clinical immunology (01.04.2019)
Published in The Journal of allergy and clinical immunology (01.04.2019)
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