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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

Humans with chronic granulomatous disease maintain humoral immunologic memory despite low frequencies of circulating memory B cells

Susan Moir, Suk See De Ravin, Brian H. Santich, Jin Young Kim, Jacqueline G. Posada, Jason Ho, Clarisa M. Buckner, Wei Wang, Lela Kardava, Mary Garofalo, Beatriz E. Marciano, Jody Manischewitz, Lisa R. King, Surender Khurana, Tae-Wook Chun, Hana Golding, Anthony S. Fauci, Harry L. Malech
Journal: Blood
Blood (2012) 120 (24): 4850–4858.
https://doi.org/10.1182/blood-2012-05-430959
Published: 2012
Includes: Supplemental data
Journal Articles

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

Clinical Trials & Observations
David H. McDermott, Qian Liu, Jean Ulrick, Nana Kwatemaa, Sandra Anaya-O'Brien, Scott R. Penzak, Joao Oliveira Filho, Debra A. Long Priel, Corin Kelly, Mary Garofalo, Patricia Littel, Martha M. Marquesen, Diane Hilligoss, Rosamma DeCastro, Thomas A. Fleisher, Douglas B. Kuhns, Harry L. Malech, Philip M. Murphy
Journal: Blood
Blood (2011) 118 (18): 4957–4962.
https://doi.org/10.1182/blood-2011-07-368084
Published: 2011
Includes: Supplemental data