Signaling role for Mg(2+) revealed by immunodeficiency due to loss of MagT1

Por Li, Feng-Yen, Chaigne-Delalande, Benjamin, Kanellopoulou, Chrysi, Davis, Jeremiah C., Matthews, Helen F., Douek, Daniel C., Cohen, Jeffrey I., Uzel, Gulbu, Su, Helen C., Lenardo, Michael J.
Publicado em 2011

Combined Immunodeficiency Associated with DOCK8 Mutations

Por Zhang, Qian, Davis, Jeremiah C., Lamborn, Ian T., Freeman, Alexandra F., Jing, Huie, Favreau, Amanda J., Matthews, Helen F., Davis, Joie, Turner, Maria L., Uzel, Gulbu, Holland, Steven M., Su, Helen C.
Publicado em 2009

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause APDS1 in humans

Por Takeda, Andrew J., Zhang, Yu, Dornan, Gillian L., Siempelkamp, Braden D., Jenkins, Meredith L., Matthews, Helen F., McElwee, Joshua J., Bi, Weimin, Seeborg, Filiz O., Su, Helen C., Burke, John E., Lucas, Carrie L.
Publicado no J Allergy Clin Immunol (2017)

Additional diverse findings expand the clinical presentation of DOCK8 deficiency

Por Sanal, Ozden, Jing, Huie, Ozgur, Tuba, Ayvaz, Deniz, Strauss-Albee, Dara M., Ersoy-Evans, Sibel, Tezcan, Ilhan, Turkkani, Gulten, Matthews, Helen F., Haliloglu, Goknur, Yuce, Aysel, Yalcin, Bilgehan, Gokoz, Ozay, Oguz, Kader K., Su, Helen C.
Publicado em 2012

Mild B Cell Lymphocytosis in Patients with a CARD11 C49Y Mutation

Por Buchbinder, David, Stinson, Jeffrey R, Nugent, Diane J., Heurtier, Lucie, Suarez, Felipe, Sukumar, Gauthaman, Dalgard, Clifton, Masson, Cécile, Parisot, Mélanie, Zhang, Yu, Matthews, Helen F., Su, Helen C., Durandy, Anne, Fischer, Alain, Kracker, Sven, Snow, Andrew L.
Publicado no J Allergy Clin Immunol (2015)

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations

Por Snow, Andrew L., Xiao, Wenming, Stinson, Jeffrey R., Lu, Wei, Chaigne-Delalande, Benjamin, Zheng, Lixin, Pittaluga, Stefania, Matthews, Helen F., Schmitz, Roland, Jhavar, Sameer, Kuchen, Stefan, Kardava, Lela, Wang, Wei, Lamborn, Ian T., Jing, Huie, Raffeld, Mark, Moir, Susan, Fleisher, Thomas A., Staudt, Louis M., Su, Helen C., Lenardo, Michael J.
Publicado em 2012

Somatic reversion in DOCK8 immunodeficiency modulates disease phenotype

Por Jing, Huie, Zhang, Qian, Zhang, Yu, Hill, Brenna J., Dove, Christopher G., Gelfand, Erwin W., Atkinson, T. Prescott, Uzel, Gulbu, Matthews, Helen F., Mustillo, Peter J., Lewis, David B., Kavadas, Fotini D., Hanson, I. Celine, Kumar, Ashish R., Geha, Raif S., Douek, Daniel C., Holland, Steven M., Freeman, Alexandra F., Su, Helen C.
Publicado em 2014

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

Por Zhang, Qian, Dove, Christopher G., Hor, Jyh Liang, Murdock, Heardley M., Strauss-Albee, Dara M., Garcia, Jordan A., Mandl, Judith N., Grodick, Rachael A., Jing, Huie, Chandler-Brown, Devon B., Lenardo, Timothy E., Crawford, Greg, Matthews, Helen F., Freeman, Alexandra F., Cornall, Richard J., Germain, Ronald N., Mueller, Scott N., Su, Helen C.
Publicado no J Exp Med (2014)

Mg(2+) regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D

Por Chaigne-Delalande, Benjamin, Li, Feng-Yen, O’Connor, Geraldine M., Lukacs, Marshall J., Jiang, Ping, Zheng, Lixin, Shatzer, Amber, Biancalana, Matthew, Pittaluga, Stefania, Matthews, Helen F., Jancel, Timothy J., Bleesing, Jack J., Marsh, Rebecca A., Kuijpers, Taco W., Nichols, Kim E., Lucas, Carrie L., Nagpal, Sunil, Mehmet, Huseyin, Su, Helen C., Cohen, Jeffrey I., Uzel, Gulbu, Lenardo, Michael J.
Publicado em 2013

Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Por Zhang, Yu, Yu, Xiaomin, Ichikawa, Mie, Lyons, Jonathan J., Datta, Shrimati, Lamborn, Ian T., Jing, Huie, Kim, Emily S., Biancalana, Matthew, Wolfe, Lynne A., DiMaggio, Thomas, Matthews, Helen F., Kranick, Sarah M., Stone, Kelly D., Holland, Steven M., Reich, Daniel S., Hughes, Jason D., Mehmet, Huseyin, McElwee, Joshua, Freeman, Alexandra F., Freeze, Hudson H., Su, Helen C., Milner, Joshua D.
Publicado em 2014

Dual Proteolytic Pathways Govern Glycolysis and Immune Competence

Por Lu, Wei, Zhang, Yu, McDonald, David O., Jing, Huie, Carroll, Bernadette, Robertson, Nic, Zhang, Qian, Griffin, Helen, Sanderson, Sharon, Lakey, Jeremy H., Morgan, Neil V., Reynard, Louise N., Zheng, Lixin, Murdock, Heardley M., Turvey, Stuart E., Hackett, Scott J., Prestidge, Tim, Hall, Julie M., Cant, Andrew J., Matthews, Helen F., Santibanez Koref, Mauro F., Simon, Anna Katharina, Korolchuk, Viktor I., Lenardo, Michael J., Hambleton, Sophie, Su, Helen C.
Publicado no Cell (2014)

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

Por Lamborn, Ian T., Jing, Huie, Zhang, Yu, Drutman, Scott B., Abbott, Jordan K., Munir, Shirin, Bade, Sangeeta, Murdock, Heardley M., Santos, Celia P., Brock, Linda G., Masutani, Evan, Fordjour, Emmanuel Y., McElwee, Joshua J., Hughes, Jason D., Nichols, Dave P., Belkadi, Aziz, Oler, Andrew J., Happel, Corinne S., Matthews, Helen F., Abel, Laurent, Collins, Peter L., Subbarao, Kanta, Gelfand, Erwin W., Ciancanelli, Michael J., Casanova, Jean-Laurent, Su, Helen C.
Publicado no J Exp Med (2017)

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

Por Abolhassani, Hassan, Edwards, Emily S.J., Ikinciogullari, Aydan, Jing, Huie, Borte, Stephan, Buggert, Marcus, Du, Likun, Matsuda-Lennikov, Mami, Romano, Rosa, Caridha, Rozina, Bade, Sangeeta, Zhang, Yu, Frederiksen, Juliet, Fang, Mingyan, Bal, Sevgi Kostel, Haskologlu, Sule, Dogu, Figen, Tacyildiz, Nurdan, Matthews, Helen F., McElwee, Joshua J., Gostick, Emma, Price, David A., Palendira, Umaimainthan, Aghamohammadi, Asghar, Boisson, Bertrand, Rezaei, Nima, Karlsson, Annika C., Lenardo, Michael J., Casanova, Jean-Laurent, Hammarström, Lennart, Tangye, Stuart G., Su, Helen C., Pan-Hammarström, Qiang
Publicado no J Exp Med (2017)

Germline hypomorphic CARD11 mutations in severe atopic disease

Por Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Publicado no Nat Genet (2017)