STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation

Autor: Masle-Farquhar, Etienne, Jackson, Katherine J.L., Peters, Timothy J., Al-Eryani, Ghamdan, Singh, Mandeep, Payne, Kathryn J., Rao, Geetha, Avery, Danielle T., Apps, Gabrielle, Kingham, Jennifer, Jara, Christopher J., Skvortsova, Ksenia, Swarbrick, Alexander, Ma, Cindy S., Suan, Daniel, Uzel, Gulbu, Chua, Ignatius, Leiding, Jennifer W., Heiskanen, Kaarina, Preece, Kahn, Kainulainen, Leena, O’Sullivan, Michael, Cooper, Megan A., Seppänen, Mikko R.J., Mustjoki, Satu, Brothers, Shannon, Vogel, Tiphanie P., Brink, Robert, Tangye, Stuart G., Reed, Joanne H., Goodnow, Christopher C.

Publikováno v: In Immunity 13 December 2022 55(12):2386-2404

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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Autor: Ghosh, Sujal ^{1, *}, Köstel Bal, Sevgi ^{2, 3, 4, *}, Edwards, Emily S.J. ^{5, 6, *}, Pillay, Bethany ^{5, 6}, Jiménez Heredia, Raúl ^{2, 3, 4}, Erol Cipe, Funda ⁷, Rao, Geetha ⁵, Salzer, Elisabeth ^{2, 3, 4, 8}, Zoghi, Samaneh ^{2, 3, 4, 9}, Abolhassani, Hassan ^{9, 10}, Momen, Tooba ¹¹, Gostick, Emma ¹², Price, David A. ^{12, 13}, Zhang, Yu ^{14, 15}, Oler, Andrew J. ^{15, 16}, Gonzaga-Jauregui, Claudia ¹⁷, Erman, Baran ^{18, 19}, Metin, Ayse ²⁰, Ilhan, Inci ²¹, Haskologlu, Sule ²², Islamoglu, Candan ²², Baskin, Kubra ²², Ceylaner, Serdar ²³, Yilmaz, Ebru ^{24, 25}, Unal, Ekrem ^{24, 25}, Karakukcu, Musa ^{24, 25}, Berghuis, Dagmar ²⁶, Cole, Theresa ²⁷, Gupta, Aditya K. ²⁸, Hauck, Fabian ²⁹, Kogler, Hubert ⁸, Hoepelman, Andy I.M. ³⁰, Baris, Safa ^{31, 32, 33}, Karakoc-Aydiner, Elif ^{31, 32, 33}, Ozen, Ahmet ^{31, 32, 33}, Kager, Leo ⁸, Holzinger, Dirk ³⁴, Paulussen, Michael ³⁵, Krüger, Renate ³⁶, Meisel, Roland ¹, Oommen, Prasad T. ¹, Morris, Emma ³⁷, Neven, Benedicte ^{38, 39}, Worth, Austen ⁴⁰, van Montfrans, Joris ⁴¹, Fraaij, Pieter L.A. ^{42, 43}, Choo, Sharon ²⁷, Dogu, Figen ²², Davies, E. Graham ⁴⁰, Burns, Siobhan ^{37, 44}, Dückers, Gregor ⁴⁵, Becker, Ruy Perez ⁴⁵, von Bernuth, Horst ^{36, 46, 47}, Latour, Sylvain ⁴⁸, Faraci, Maura ⁴⁹, Gattorno, Marco ⁵⁰, Su, Helen C. ^{14, 15}, Pan-Hammarström, Qiang ⁵¹, Hammarström, Lennart ^{10, 52}, Lenardo, Michael J. ^{15, 53}, Ma, Cindy S. ^{5, 6}, Niehues, Tim ⁴⁵, Aghamohammadi, Asghar ^{9, 54}, Rezaei, Nima ^{9, 54, †}, Ikinciogullari, Aydan ²², Tangye, Stuart G. ^{5, 6}, Lankester, Arjan C. ^{26, †}, Boztug, Kaan ^{2, 3, 4, 8, 55, †}

Publikováno v: In Blood 3 December 2020 136(23):2638-2655

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells

Autor: Bier, Julia, Rao, Geetha, Payne, Kathryn, Brigden, Henry, French, Elise, Pelham, Simon J., Lau, Anthony, Lenthall, Helen, Edwards, Emily S.J. ^‡, Smart, Joanne M., Cole, Theresa S., Choo, Sharon, Joshi, Avni Y., Abraham, Roshini S., O'Sullivan, Michael, Boztug, Kaan, Meyts, Isabelle, Gray, Paul E., Berglund, Lucinda J., Hsu, Peter, Wong, Melanie, Holland, Steven M., Notarangelo, Luigi D., Uzel, Gulbu, Ma, Cindy S., Brink, Robert, Tangye, Stuart G., Deenick, Elissa K.

Publikováno v: In The Journal of Allergy and Clinical Immunology July 2019 144(1):236-253

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

Autor: Ma, Cindy S., Wong, Natalie, Rao, Geetha, Avery, Danielle T., Torpy, James, Hambridge, Thomas, Bustamante, Jacinta, Okada, Satoshi, Stoddard, Jennifer L., Deenick, Elissa K., Pelham, Simon J., Payne, Kathryn, Boisson-Dupuis, Stéphanie, Puel, Anne, Kobayashi, Masao, Arkwright, Peter D., Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Minegishi, Yoshiyuki, Mahdaviani, Seyed Alireza, Mansouri, Davood, Bousfiha, Aziz, Blincoe, Annaliesse K., French, Martyn A., Hsu, Peter, Campbell, Dianne E., Stormon, Michael O., Wong, Melanie, Adelstein, Stephen, Smart, Joanne M., Fulcher, David A., Cook, Matthew C., Phan, Tri Giang, Stepensky, Polina, Boztug, Kaan, Kansu, Aydan, İkincioğullari, Aydan, Baumann, Ulrich, Beier, Rita, Roscioli, Tony, Ziegler, John B., Gray, Paul, Picard, Capucine, Grimbacher, Bodo, Warnatz, Klaus, Holland, Steven M., Casanova, Jean-Laurent, Uzel, Gulbu, Tangye, Stuart G.

Publikováno v: In The Journal of Allergy and Clinical Immunology October 2015 136(4):993-1006