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1.

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110Î´ result in T cell senescence and human immunodeficiency.

Lucas, Carrie L; Kuehn, Hye Sun; Zhao, Fang; Niemela, Julie E; Deenick, Elissa K; Palendira, Umaimainthan; Avery, Danielle T; Moens, Leen; Cannons, Jennifer L; Biancalana, Matthew; Stoddard, Jennifer; Ouyang, Weiming; Frucht, David M; Rao, V Koneti; Atkinson, T Prescott; Agharahimi, Anahita; Hussey, Ashleigh A; Folio, Les R; Olivier, Kenneth N; Fleisher, Thomas A; Pittaluga, Stefania; Holland, Steven M; Cohen, Jeffrey I; Oliveira, Joao B; Tangye, Stuart G; Schwartzberg, Pamela L; Lenardo, Michael J; Uzel, Gulbu.

Nat Immunol ; 15(1): 88-97, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24165795

2.

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Kuehn, Hye Sun; Niemela, Julie E; Stoddard, Jennifer; Mannurita, Sara Ciullini; Shahin, Tala; Goel, Shubham; Hintermeyer, Mary; Heredia, Raul Jimenez; Garofalo, Mary; Lucas, Laura; Singh, Smriti; Tondo, Annalisa; Jacobs, Zachary; Gahl, William A; Latour, Sylvain; Verbsky, James; Routes, John; Cunningham-Rundles, Charlotte; Boztug, Kaan; Gambineri, Eleonora; Fleisher, Thomas A; Chandrakasan, Shanmuganathan; Rosenzweig, Sergio D.

Blood ; 137(3): 349-363, 2021 01 21.

Artigo em Inglês | MEDLINE | ID: mdl-32845957

3.

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Delmonte, Ottavia M; Bergerson, Jenna R E; Kawai, Tomoki; Kuehn, Hye Sun; McDermott, David H; Cortese, Irene; Zimmermann, Michael T; Dobbs, A Kerry; Bosticardo, Marita; Fink, Danielle; Majumdar, Shamik; Palterer, Boaz; Pala, Francesca; Dsouza, Nikita R; Pouzolles, Marie; Taylor, Naomi; Calvo, Katherine R; Daley, Stephen R; Velez, Daniel; Agharahimi, Anahita; Myint-Hpu, Katherine; Dropulic, Lesia K; Lyons, Jonathan J; Holland, Steven M; Freeman, Alexandra F; Ghosh, Rajarshi; Similuk, Morgan B; Niemela, Julie E; Stoddard, Jennifer; Kuhns, Douglas B; Urrutia, Raul; Rosenzweig, Sergio D; Walkiewicz, Magdalena A; Murphy, Philip M; Notarangelo, Luigi D.

Blood ; 138(12): 1019-1033, 2021 09 23.

Artigo em Inglês | MEDLINE | ID: mdl-33876203

4.

Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21.

Hwang, SuJin; Tatsi, Christina; Kuehn, Hye Sun; Niemela, Julie E; Stoddard, Jennifer; Su, Yan; Lodish, Maya; Uzel, Gulbu; Spolski, Rosanne; Leonard, Warren J; Holland, Steven M; Fleisher, Thomas A; Stratakis, Constantine A; Rosenzweig, Sergio D.

J Allergy Clin Immunol ; 149(1): 302-314, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34089750

5.

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.

Goel, Shubham; Kuehn, Hye Sun; Chinen, Javier; Niemela, Julie; Stoddard, Jennifer; Yamanaka, Daisuke; Garofalo, Mary; Samir, Sophia; Migaud, Melanie; Oikonomou, Vasileios; Fleisher, Thomas; Puel, Anne; Lionakis, Michail S; Rosenzweig, Sergio D.

J Clin Immunol ; 42(2): 336-349, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34791587

6.

Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.

Tangye, Stuart G; Gray, Paul E; Pillay, Bethany A; Yap, Jin Yan; Figgett, William A; Reeves, John; Kummerfeld, Sarah K; Stoddard, Jennifer; Uzel, Gulbu; Jing, Huie; Su, Helen C; Campbell, Dianne E; Sullivan, Anna; Burnett, Leslie; Peake, Jane; Ma, Cindy S.

J Clin Immunol ; 42(1): 119-129, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34657245

7.

A Randomized, Placebo-controlled, Double-blind Pilot Study of Single-dose Humanized Anti-IL5 Antibody (Reslizumab) for the Reduction of Eosinophilia Following Diethylcarbamazine Treatment of Loa loa Infection.

Legrand, Fanny; Herrick, Jesica; Makiya, Michelle; Ramanathan, Roshan; Thompson, Reagan; Rampertaap, Shakuntala; Stoddard, Jennifer; Ware, JeanAnne; Fay, Michael P; Holland-Thomas, Nicole; Nutman, Thomas B; Klion, Amy D.

Clin Infect Dis ; 73(7): e1624-e1631, 2021 10 05.

Artigo em Inglês | MEDLINE | ID: mdl-32910141

8.

Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways.

Howe, Matthew K; Dowdell, Kennichi; Kuehn, Hye Sun; Li, Qingxue; Hart, Geoffrey T; Garabedian, Doreen; Liepshutz, Kelly; Hsu, Amy P; Su, Hua; Niemela, Julie E; Stoddard, Jennifer L; Uzel, Gulbu; Shereck, Evan; Schulz, Laura; Feldman, Tatyana; Rosenzweig, Sergio D; Long, Eric O; Dropulic, Lesia; Cohen, Jeffrey I.

J Infect Dis ; 222(7): 1170-1179, 2020 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-32386415

9.

Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

Kuehn, Hye Sun; Bernasconi, Andrea; Niemela, Julie E; Almejun, Maria Belen; Gallego, William Alexander Franco; Goel, Shubham; Stoddard, Jennifer L; Sánchez, Ronald Guillermo Peláez; Franco, Carlos Andrés Arango; Oleastro, Matías; Grunebaum, Eyal; Ballas, Zuhair; Cunningham-Rundles, Charlotte; Fleisher, Thomas A; Franco, José Luis; Danielian, Silvia; Rosenzweig, Sergio D.

J Clin Immunol ; 40(8): 1102, 2020 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-32901356

10.

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

Kuehn, Hye Sun; Bernasconi, Andrea; Niemela, Julie E; Almejun, Maria Belen; Gallego, William Alexander Franco; Goel, Shubham; Stoddard, Jennifer L; Sánchez, Ronald Guillermo Peláez; Franco, Carlos Andrés Arango; Oleastro, Matías; Grunebaum, Eyal; Ballas, Zuhair; Cunningham-Rundles, Charlotte; Fleisher, Thomas A; Franco, José Luis; Danielian, Silvia; Rosenzweig, Sergio D.

J Clin Immunol ; 40(8): 1093-1101, 2020 11.

Artigo em Inglês | MEDLINE | ID: mdl-32813180

11.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Kuehn, Hye Sun; Niemela, Julie E; Sreedhara, Karthik; Stoddard, Jennifer L; Grossman, Jennifer; Wysocki, Christian A; de la Morena, M Teresa; Garofalo, Mary; Inlora, Jingga; Snyder, Michael P; Lewis, David B; Stratakis, Constantine A; Fleisher, Thomas A; Rosenzweig, Sergio D.

Blood ; 130(13): 1553-1564, 2017 09 28.

Artigo em Inglês | MEDLINE | ID: mdl-28778864

12.

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

Sadat, Mohammed A; Moir, Susan; Chun, Tae-Wook; Lusso, Paolo; Kaplan, Gerardo; Wolfe, Lynne; Memoli, Matthew J; He, Miao; Vega, Hugo; Kim, Leo J Y; Huang, Yan; Hussein, Nadia; Nievas, Elma; Mitchell, Raquel; Garofalo, Mary; Louie, Aaron; Ireland, Derek C; Grunes, Claire; Cimbro, Raffaello; Patel, Vyomesh; Holzapfel, Genevieve; Salahuddin, Daniel; Bristol, Tyler; Adams, David; Marciano, Beatriz E; Hegde, Madhuri; Li, Yuxing; Calvo, Katherine R; Stoddard, Jennifer; Justement, J Shawn; Jacques, Jerome; Priel, Debra A Long; Murray, Danielle; Sun, Peter; Kuhns, Douglas B; Boerkoel, Cornelius F; Chiorini, John A; Di Pasquale, Giovanni; Verthelyi, Daniela; Rosenzweig, Sergio D.

N Engl J Med ; 370(17): 1615-1625, 2014 Apr 24.

Artigo em Inglês | MEDLINE | ID: mdl-24716661

13.

IFNÎ³R1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH.

Khalid, Muhammad Bilal; Lemos, Sónia Gaspar; Myint-Hpu, Katherine; Draper, Debbie; Stoddard, Jennifer; Niemela, Julie E; Rosenzweig, Sergio D; Pittaluga, Stefania; Delmonte, Ottavia M; Notarangelo, Luigi D.

Pediatr Allergy Immunol ; 33(1): e13653, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34407251

14.

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

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; Ikinciogullari, 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.

J Allergy Clin Immunol ; 136(4): 993-1006.e1, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26162572

15.

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

Cohen, Jeffrey I; Niemela, Julie E; Stoddard, Jennifer L; Pittaluga, Stefania; Heslop, Helen; Jaffe, Elaine S; Dowdell, Kennichi.

J Clin Immunol ; 35(5): 445-8, 2015 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-25947952

16.

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

Hartman, Heather N; Niemela, Julie; Hintermeyer, Mary K; Garofalo, Mary; Stoddard, Jennifer; Verbsky, James W; Rosenzweig, Sergio D; Routes, John M.

J Clin Immunol ; 35(1): 11-4, 2015 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-25352054

17.

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.

Nichols-Vinueza, Diana X; Delmonte, Ottavia M; Bundy, Vanessa; Bosticardo, Marita; Zimmermann, Michael T; Dsouza, Nikita R; Pala, Francesca; Dobbs, Kerry; Stoddard, Jennifer; Niemela, Julie E; Kuehn, Hye Sun; Keller, Michael D; Rueda, Cesar M; Abraham, Roshini S; Urrutia, Raul; Rosenzweig, Sergio D; Notarangelo, Luigi D.

J Clin Immunol ; 41(1): 270-273, 2021 01.

Artigo em Inglês | MEDLINE | ID: mdl-33140240

18.

Loss-of-function of the protein kinase C Î´ (PKCÎ´) causes a B-cell lymphoproliferative syndrome in humans.

Kuehn, Hye Sun; Niemela, Julie E; Rangel-Santos, Andreia; Zhang, Mingchang; Pittaluga, Stefania; Stoddard, Jennifer L; Hussey, Ashleigh A; Evbuomwan, Moses O; Priel, Debra A Long; Kuhns, Douglas B; Park, C Lucy; Fleisher, Thomas A; Uzel, Gulbu; Oliveira, João B.

Blood ; 121(16): 3117-25, 2013 Apr 18.

Artigo em Inglês | MEDLINE | ID: mdl-23430113

19.

Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder.

Khoury, Paneez; Herold, Jacqueline; Alpaugh, Alexandra; Dinerman, Ellen; Holland-Thomas, Nicole; Stoddard, Jennifer; Gurprasad, Shakuntala; Maric, Irina; Simakova, Olga; Schwartz, Lawrence B; Fong, Juelia; Lee, Chyi-Chia Richard; Xi, Liqiang; Wang, Zengfeng; Raffeld, Mark; Klion, Amy D.

Haematologica ; 100(3): 300-7, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25527564

20.

Marked and persistent eosinophilia in the absence of clinical manifestations.

Chen, Yun-Yun K; Khoury, Paneez; Ware, JeanAnne M; Holland-Thomas, Nicole C; Stoddard, Jennifer L; Gurprasad, Shakuntala; Waldner, Amy J; Klion, Amy D.

J Allergy Clin Immunol ; 133(4): 1195-202, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23987798

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