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Julie E. Niemela
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Journal Articles

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

Clinical Trials & Observations
Ottavia M. Delmonte, Jenna R. E. Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese, Michael T. Zimmermann, A. Kerry Dobbs, Marita Bosticardo, Danielle Fink, Shamik Majumdar, Boaz Palterer, Francesca Pala, Nikita R. Dsouza, Marie Pouzolles, Naomi Taylor, Katherine R. Calvo, Stephen R. Daley, Daniel Velez, Anahita Agharahimi, Katherine Myint-Hpu, Lesia K. Dropulic, Jonathan J. Lyons, Steven M. Holland, Alexandra F. Freeman, Rajarshi Ghosh, Morgan B. Similuk, Julie E. Niemela, Jennifer Stoddard, Douglas B. Kuhns, Raul Urrutia, Sergio D. Rosenzweig, Magdalena A. Walkiewicz, Philip M. Murphy, Luigi D. Notarangelo
Journal: Blood
Blood (2021) 138 (12): 1019–1033.
https://doi.org/10.1182/blood.2020008629
Published: 2021
Includes: Supplemental data
Journal Articles

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel, Mary Hintermeyer, Raul Jimenez Heredia, Mary Garofalo, Laura Lucas, Smriti Singh, Annalisa Tondo, Zachary Jacobs, William A. Gahl, Sylvain Latour, James Verbsky, John Routes, Charlotte Cunningham-Rundles, Kaan Boztug, Eleonora Gambineri, Thomas A. Fleisher, Shanmuganathan Chandrakasan, Sergio D. Rosenzweig
Journal: Blood
Blood (2021) 137 (3): 349–363.
https://doi.org/10.1182/blood.2020007292
Published: 2021
Includes: Supplemental data
Journal Articles

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

Hye Sun Kuehn, Julie E. Niemela, Karthik Sreedhara, Jennifer L. Stoddard, Jennifer Grossman, Christian A. Wysocki, M. Teresa de la Morena, Mary Garofalo, Jingga Inlora, Michael P. Snyder, David B. Lewis, Constantine A. Stratakis, Thomas A. Fleisher, Sergio D. Rosenzweig
Journal: Blood
Blood (2017) 130 (13): 1553–1564.
https://doi.org/10.1182/blood-2017-05-782177
Published: 2017
Includes: Supplemental data
Journal Articles

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Joshua D. Milner, Tiphanie P. Vogel, Lisa Forbes, Chi A. Ma, Asbjørg Stray-Pedersen, Julie E. Niemela, Jonathan J. Lyons, Karin R. Engelhardt, Yu Zhang, Nermina Topcagic, Elisha D. O. Roberson, Helen Matthews, James W. Verbsky, Trivikram Dasu, Alexander Vargas-Hernandez, Nidhy Varghese, Kenneth L. McClain, Lina B. Karam, Karen Nahmod, George Makedonas, Emily M. Mace, Hanne S. Sorte, Gøri Perminow, V. Koneti Rao, Michael P. O’Connell, Susan Price, Helen C. Su, Morgan Butrick, Joshua McElwee, Jason D. Hughes, Joseph Willet, David Swan, Yaobo Xu, Mauro Santibanez-Koref, Voytek Slowik, Darrell L. Dinwiddie, Christina E. Ciaccio, Carol J. Saunders, Seth Septer, Stephen F. Kingsmore, Andrew J. White, Andrew J. Cant, Sophie Hambleton, Megan A. Cooper
Journal: Blood
Blood (2015) 125 (4): 591–599.
https://doi.org/10.1182/blood-2014-09-602763
Published: 2015
Includes: Supplemental data
Journal Articles

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Susan Price, Pamela A. Shaw, Amy Seitz, Gyan Joshi, Joie Davis, Julie E. Niemela, Katie Perkins, Ronald L. Hornung, Les Folio, Philip S. Rosenberg, Jennifer M. Puck, Amy P. Hsu, Bernice Lo, Stefania Pittaluga, Elaine S. Jaffe, Thomas A. Fleisher, V. Koneti Rao, Michael J. Lenardo
Journal: Blood
Blood (2014) 123 (13): 1989–1999.
https://doi.org/10.1182/blood-2013-10-535393
Published: 2014
Includes: Supplemental data
Journal Articles

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Hye Sun Kuehn, Julie E. Niemela, Andreia Rangel-Santos, Mingchang Zhang, Stefania Pittaluga, Jennifer L. Stoddard, Ashleigh A. Hussey, Moses O. Evbuomwan, Debra A. Long Priel, Douglas B. Kuhns, C. Lucy Park, Thomas A. Fleisher, Gulbu Uzel, João B. Oliveira
Journal: Blood
Blood (2013) 121 (16): 3117–3125.
https://doi.org/10.1182/blood-2012-12-469544
Published: 2013
Includes: Supplemental data
Journal Articles

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

Brief Report
Julie E. Niemela, Lianghao Lu, Thomas A. Fleisher, Joie Davis, Iusta Caminha, Marc Natter, Laurel A. Beer, Kennichi C. Dowdell, Stefania Pittaluga, Mark Raffeld, V. Koneti Rao, João B. Oliveira
Journal: Blood
Blood (2011) 117 (10): 2883–2886.
https://doi.org/10.1182/blood-2010-07-295501
Published: 2011
Includes: Supplemental data
Journal Articles

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

Suk See De Ravin, Edward W. Cowen, Kol A. Zarember, Narda L. Whiting-Theobald, Douglas B. Kuhns, Netanya G. Sandler, Daniel C. Douek, Stefania Pittaluga, Pietro L. Poliani, Yu Nee Lee, Luigi D. Notarangelo, Lei Wang, Frederick W. Alt, Elizabeth M. Kang, Joshua D. Milner, Julie E. Niemela, Mary Fontana-Penn, Sara H. Sinal, Harry L. Malech
Journal: Blood
Blood (2010) 116 (8): 1263–1271.
https://doi.org/10.1182/blood-2010-02-267583
Published: 2010
Journal Articles

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

Kennichi C. Dowdell, Julie E. Niemela, Susan Price, Joie Davis, Ronald L. Hornung, João Bosco Oliveira, Jennifer M. Puck, Elaine S. Jaffe, Stefania Pittaluga, Jeffrey I. Cohen, Thomas A. Fleisher, V. Koneti Rao
Journal: Blood
Blood (2010) 115 (25): 5164–5169.
https://doi.org/10.1182/blood-2010-01-263145
Published: 2010
Includes: Supplemental data