X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

por Agrebi, Nourhen, Gentilcore, Giusy, Grivel, Jean-Charles, Alkhayer, Ghroob, Hassoun, Jihad, Hassan, Amel, Adeli, Mehdi, Lo, Bernice
Publicado 2021

A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

por Hildebrand, Joanne M., Lo, Bernice, Tomei, Sara, Mattei, Valentina, Young, Samuel N., Fitzgibbon, Cheree, Murphy, James M., Fadda, Abeer
Publicado 2021

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency

por Yu, Fang, Agrebi, Nourhen, Mackeh, Rafah, Abouhazima, Khaled, KhudaBakhsh, Khadija, Adeli, Mehdi, Lo, Bernice, Hassan, Amel, Machaca, Khaled
Publicado 2021

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

por Sharifinejad, Niusha, Jamee, Mahnaz, Zaki-Dizaji, Majid, Lo, Bernice, Shaghaghi, Mohammadreza, Mohammadi, Hamed, Jadidi-Niaragh, Farhad, Shaghaghi, Shiva, Yazdani, Reza, Abolhassani, Hassan, Aghamohammadi, Asghar, Azizi, Gholamreza
Publicado 2020

In vitro Interleukin-7 treatment partially rescues MAIT cell dysfunction caused by SARS-CoV-2 infection

por Hubrack, Satanay, Al-Nesf, Maryam Ali, Agrebi, Nourhen, Raynaud, Christophe, Khattab, Mohammed Abu, Thomas, Merlin, Ibrahim, Tayseer, Taha, Salma, Dermime, Said, Merhi, Maysaloun, Kulinski, Michal, Steinhoff, Martin, Tang, Patrick, Lo, Bernice
Publicado 2021

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

por Fadda, Abeer, Butt, Fiza, Tomei, Sara, Deola, Sara, Lo, Bernice, Robay, Amal, Al-Shakaki, Alya, Al-Hajri, Noor, Crystal, Ronald, Kambouris, Marios, Wang, Ena, Marincola, Francesco M., Fakhro, Khalid A., Cugno, Chiara
Publicado 2016

Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease

por Al-Shaibi, Ahmad A., Abdel-Motal, Ussama M., Hubrack, Satanay Z., Bullock, Alex N., Al-Marri, Amna A., Agrebi, Nourhen, Al-Subaiey, Abdulrahman A., Ibrahim, Nazira A., Charles, Adrian K., Elawad, Mamoun, Uhlig, Holm H., Lo, Bernice
Publicado 2021

Antibodies against insulin measured by electrochemiluminescence predicts insulitis severity and disease onset in non-obese diabetic mice and can distinguish human type 1 diabetes s...

por Lo, Bernice, Swafford, Austin DE, Shafer-Weaver, Kimberly A, Jerome, Lawrence F, Rakhlin, Luba, Mathern, Douglas R, Callahan, Conor A, Jiang, Ping, Davison, Lucy J, Stevens, Helen E, Lucas, Carrie L, White, Jill, von Borstel, Reid, Todd, John A, Lenardo, Michael J
Publicado 2011

Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)

por Lisco, Andrea, Wong, Chun-Shu, Price, Susan, Ye, Peiying, Niemela, Julie, Anderson, Megan, Richards, Elizabeth, Manion, Maura, Mystakelis, Harry, Similuk, Morgan, Lo, Bernice, Stoddard, Jennifer, Rosenzweig, Sergio, Vanpouille, Christophe, Rupert, Adam, Maric, Irina, Perez-Diez, Ainhoa, Parenti, David, Burbelo, Peter D., Rao, V. Koneti, Sereti, Irini
Publicado 2019

Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)

por Lisco, Andrea, Wong, Chun-Shu, Price, Susan, Ye, Peiying, Niemela, Julie, Anderson, Megan, Richards, Elizabeth, Manion, Maura, Mystakelis, Harry, Similuk, Morgan, Lo, Bernice, Stoddard, Jennifer, Rosenzweig, Sergio, Vanpouille, Christophe, Rupert, Adam, Maric, Irina, Perez-Diez, Ainhoa, Parenti, David, Burbelo, Peter D., Rao, V. Koneti, Sereti, Irini
Publicado 2019

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes

por Guennoun, Andrea, Bougarn, Salim, Khan, Taushif, Mackeh, Rafah, Rahman, Mahbuba, Al-Ali, Fatima, Ata, Manar, Aamer, Waleed, Prosser, Debra, Habib, Tanwir, Chin-Smith, Evonne, Al-Darwish, Khawla, Zhang, Qian, Al-Shakaki, Alya, Robay, Amal, Crystal, Ronald G., Fakhro, Khalid, Al-Naimi, Amal, Al Maslamani, Eman, Tuffaha, Amjad, Janahi, Ibrahim, Janahi, Mohammad, Love, Donald R., Karim, Mohammed Yousuf, Lo, Bernice, Hassan, Amel, Adeli, Mehdi, Marr, Nico
Publicado 2021

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

por Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo P, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Ward Melver, Catherine, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Walsh Vockley, Catherine, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L
Publicado 2021