Page 1 | Search Results | Blood | American Society of Hematology

1-14 of 14

Sort by

Sort Order Select

Journal Articles

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

Blood (2021) 138 (12): 1019–1033.

https://doi.org/10.1182/blood.2020008629

Published: 2021

Includes: Supplemental data

Journal Articles

Enhanced homology-directed repair for highly efficient gene editing in hematopoietic stem/progenitor cells

Blood (2021) 137 (19): 2598–2608.

https://doi.org/10.1182/blood.2020008503

Published: 2021

Includes: Supplemental data

Journal Articles

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

Blood (2019) 133 (18): 1977–1988.

https://doi.org/10.1182/blood-2018-11-886028

Published: 2019

Includes: Multimedia, Supplemental data

Journal Articles

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Blood (2016) 128 (17): 2135–2143.

https://doi.org/10.1182/blood-2016-03-706028

Published: 2016

Includes: Multimedia, Supplemental data

Journal Articles

Allogeneic Transplantation for P40 CGD Is Curative of Inflammatory Disease

Elizabeth M. Kang, MD, Nicola A. Wright, MD FRCPC, Katherine Nicholls, MBBS, FRACP, FRCPA, Dianne Hilligoss, RN, MSN, CRNP, Corin Kelly, RN, Douglas B. Kuhns, PhD, Harry L. Malech, MD

Blood (2015) 126 (23): 5515.

https://doi.org/10.1182/blood.V126.23.5515.5515

Published: 2015

Journal Articles

A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor

Blood (2014) 123 (15): 2308–2316.

https://doi.org/10.1182/blood-2013-09-527226

Published: 2014

Includes: Supplemental data

Journal Articles

A Platform Minigene AAVS1 Targeted Safe Harbor Approach For Genetic Correction Of iPSC Derived From Patients With Each Of The 5 Genetic Forms Of Chronic Granulomatous Disease

Randall K Merling, Ph.D., Colin L Sweeney, Ph.D., Uimook Choi, Ph.D., Aaron Bodansky, Jessica Chu, Ph.D., Debra Long Priel, Douglas B Kuhns, Ph.D., Hongmei Wang, MD, Sam Vasilevsky, Ph.D., Thomas Winkler, MD, Suk See DeRavin, MD, Jizhong Zou, Ph.D., Thomas Leto, Ph.D., Cynthia E. Dunbar, MD, John Gallin, MD, Steven M. Holland, MD, Harry Malech, MD

Blood (2013) 122 (21): 1024.

https://doi.org/10.1182/blood.V122.21.1024.1024

Published: 2013

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

Blood (2013) 121 (16): 3117–3125.

https://doi.org/10.1182/blood-2012-12-469544

Published: 2013

Includes: Supplemental data

Journal Articles

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

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

Blood (2011) 118 (18): 4957–4962.

https://doi.org/10.1182/blood-2011-07-368084

Published: 2011

Includes: Supplemental data

Journal Articles

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Blood (2011) 118 (10): 2653–2655.

https://doi.org/10.1182/blood-2011-05-356352

Published: 2011

Includes: Supplemental data

Journal Articles

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

David H. McDermott, Suk See De Ravin, Hyun Sik Jun, Qian Liu, Debra A. Long Priel, Pierre Noel, Clifford M. Takemoto, Teresa Ojode, Scott M. Paul, Kimberly P. Dunsmore, Dianne Hilligoss, Martha Marquesen, Jean Ulrick, Douglas B. Kuhns, Janice Y. Chou, Harry L. Malech, Philip M. Murphy

Blood (2010) 116 (15): 2793–2802.

https://doi.org/10.1182/blood-2010-01-265942

Published: 2010

Journal Articles

Tryptophan/kynurenine metabolism in human leukocytes is independent of superoxide and is fully maintained in chronic granulomatous disease

Suk See De Ravin, Kol A. Zarember, Debra Long-Priel, King C. Chan, Stephen D. Fox, John I. Gallin, Douglas B. Kuhns, Harry L. Malech

Blood (2010) 116 (10): 1755–1760.

https://doi.org/10.1182/blood-2009-07-233734

Published: 2010

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

Blood (2010) 116 (8): 1263–1271.

https://doi.org/10.1182/blood-2010-02-267583

Published: 2010

Journal Articles

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Blood (2010) 115 (8): 1519–1529.

https://doi.org/10.1182/blood-2009-03-208629

Published: 2010

NARROW

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

Enhanced homology-directed repair for highly efficient gene editing in hematopoietic stem/progenitor cells

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Allogeneic Transplantation for P40 CGD Is Curative of Inflammatory Disease

A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor

A Platform Minigene AAVS1 Targeted Safe Harbor Approach For Genetic Correction Of iPSC Derived From Patients With Each Of The 5 Genetic Forms Of Chronic Granulomatous Disease

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

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

Tryptophan/kynurenine metabolism in human leukocytes is independent of superoxide and is fully maintained in chronic granulomatous disease

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Email alerts

ASH Publications

American Society of Hematology

Email alerts

ASH Publications

American Society of Hematology

This Feature Is Available To Subscribers Only