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1

Th1 T-CELL AND MONOCYTE DEFECTS

Uzel, Gülbû, Holland, Steven M.

Journal:

Pediatric Clinics of North America

Year:

2000

Language:

english

File:

PDF, 867 KB

english, 2000

2

International Retrospective Study of Allogeneic Hematopoietic Cell Transplantation (HCT) for Activated Phosphoinositide 3-Kinase Delta (PI3K) Syndrome

Dimitrova, Dimana, Nademi, Zohreh, Maccari, Maria Elena, Ehl, Stephan, Lankester, Arjan C., Gennery, Andrew, Uzel, Gulbu, Laberko, Alexandra, Mukhina, Anna, Ip, Winnie, Rao, Kanchan, Worth, Austen J.J

Journal:

Biology of Blood and Marrow Transplantation

Year:

2020

File:

PDF, 887 KB

2020

3

The genetics of tethered cord syndrome

Alexander G. Bassuk, David Craig, Ali Jalali, Abhishek Mukhopadhyay, Francine Kim, Joel Charrow, Uzel Gulbu, Leon G. Epstein, Robin Bowman, David Mclone, Hisato Yagi, Rumiko Matsuoka, Dietrich A. Step

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 96 KB

english, 2005

4

White blood cell defects: Molecular discoveries and clinical management

Gulbu Uzel, Steven M. Holland

Journal:

Current Allergy and Asthma Reports

Year:

2002

Language:

english

File:

PDF, 419 KB

english, 2002

5

STAT3 Mutations in the Hyper-IgE Syndrome

Holland, Steven M., DeLeo, Frank R., Elloumi, Houda Z., Hsu, Amy P., Uzel, Gulbu, Brodsky, Nina, Freeman, Alexandra F., Demidowich, Andrew, Davis, Joie, Turner, Maria L.

Journal:

Boston Medical and Surgical Journal

Year:

2007

Language:

english

File:

PDF, 236 KB

english, 2007

6

Human T Cell Activation Induces the Expression of a Novel CD45 Isoform That Is Analogous to Murine B220 and Is Associated with Altered O-Glycan Synthesis and Onset of Apoptosis

Jack J.H. Bleesing, Matthew R. Morrow, Gulbu Uzel, Thomas A. Fleisher

Journal:

Cellular Immunology

Year:

2001

Language:

english

File:

PDF, 236 KB

english, 2001

7

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

Sampaio, Elizabeth P., Bax, Hannelore I., Hsu, Amy P., Kristosturyan, Ervand, Pechacek, Joseph, Chandrasekaran, Prabha, Paulson, Michelle L., Dias, Dalton L., Spalding, Christine, Uzel, Gulbu, Ding, L

Journal:

Journal of Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 590 KB

english, 2012

8

Streptococcal Infections in Patients with Chronic Granulomatous Disease: Case Report and Review of the Literature

Falcone, E. Liana, Hanses, Stephan, Stock, Frida, Holland, Steven M., Zelazny, Adrian M., Uzel, Gulbu

Journal:

Journal of Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 174 KB

english, 2012

9

Sa.94. V61Q Mutation Supports Partial IFN-Gamma Receptor 1 Function

Gulbu Uzel, Smita Patel, John Routes, Steven Holland

Journal:

Clinical Immunology

Year:

2006

Language:

english

File:

PDF, 41 KB

english, 2006

10

Peripheral Blood Flow Cytometric Evaluation of a Large Cohort of Hyper Immunoglobulin E Syndrome Patients

Nina N. Brodsky, Margaret R. Brown, Steven M. Holland, Gulbu Uzel

Journal:

Clinical Immunology

Year:

2007

Language:

english

File:

PDF, 53 KB

english, 2007

11

F.88. Changes in Plasma Metalloproteinase Levels in Hyper IgE Syndrome

Vibhav Sekhsaria, Li Ding, Steven Holland, Gulbu Uzel

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 36 KB

english, 2008

12

Identification of a Novel STAT1 Dominant Negative Mutation Characterizes Decreased Activation in Response to Interferon Gamma

Houda Elloumi, Michelle Paulson, Li Ding, Uzel Gulbu, Ervand Kristosturyan, Hannelore Bax, Elizabeth Sampaio, Steven Holland

Journal:

Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 56 KB

english, 2010

13

High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease

Joyce E. Yu, Suk See De Ravin, Gulbu Uzel, Carol Landers, Stephan Targan, Harry L. Malech, Steven M. Holland, Wenqing Cao, Noam Harpaz, Lloyd Mayer, Charlotte Cunningham-Rundles

Journal:

Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 734 KB

english, 2011

14

CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome

Xiying Fan, Bhaskar Upadhyaya, Liming Wu, Christopher Koh, Mónica Santín-Durán, Stefania Pittaluga, Gulbu Uzel, David Kleiner, Ester Williams, Chi A. Ma, Aaron Bodansky, Joao B. Oliveira, Pamela Edmon

Journal:

Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

15

Hematologically important mutations: Leukocyte adhesion deficiency (first update)

Edith van de Vijver, Anne Maddalena, Özden Sanal, Steven M. Holland, Gulbu Uzel, Manisha Madkaikar, Martin de Boer, Karin van Leeuwen, M. Yavuz Köker, Nima Parvaneh, Alain Fischer, S.K. Alex Law, Nige

Journal:

Blood Cells, Molecules, and Diseases

Year:

2012

Language:

english

File:

PDF, 936 KB

english, 2012

16

Stamping out Staphylococcus

Howard M. Lederman, Gulbu Uzel, R.Alexander Blackwood, Kathleen E. Sullivan

Journal:

Clinical Immunology

Year:

2004

Language:

english

File:

PDF, 78 KB

english, 2004

17

Viral infections in interferon-γ receptor deficiency

Susan E. Dorman, Gulbu Uzel, Joachim Roesler, John S. Bradley, John Bastian, Glenn Billman, Susan King, Armando Filie, James Schermerhorn, Steven M. Holland

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 34 KB

english, 1999

18

A Novel Autosomal-dominant Late-onset Immunodeficiency with Susceptibility to Mycobacteria, Fungi, Papillomavirus and Myeloid Malignancies

Donald Vinh, Smita Patel, Gulbu Uzel, Victoria Anderson, Alexandra Freeman, Kenneth Olivier, Houda Elloumi, Li Ding, Douglas Kuhns, Danielle Fink, Deborah Long-Priel, Frank DeLeo, Elizabeth Sampaio, M

Journal:

International Journal of Infectious Diseases

Year:

2008

Language:

english

File:

PDF, 57 KB

english, 2008

19

Herniated Nuclear Morphology and Cytoskeletal Anomalies in Neutrophils from Sisters with Recurrent Infections

Douglas Kuhns, Donald Vinh, Gulbu Uzel, John Gallin, Steven Holland

Journal:

International Journal of Infectious Diseases

Year:

2008

Language:

english

File:

PDF, 70 KB

english, 2008

20

The First Report of Somatic Mutation Reversion X-Linked Chronic Granulomatous Disease

Gulbu Uzel, Douglas Kuhns, Gilda Linton, Paul Quie, Steven Holland

Journal:

International Journal of Infectious Diseases

Year:

2008

Language:

english

File:

PDF, 55 KB

english, 2008

21

Detection of Intracellular Phosphorylated STAT-4 by Flow Cytometry

Gülbû Uzel, David M. Frucht, Thomas A. Fleisher, Steven M. Holland

Journal:

Clinical Immunology

Year:

2001

Language:

english

File:

PDF, 215 KB

english, 2001

22

GI involvement in disseminated Mycobacterium genavense: endoscopy and histology

Manish Arora, Gulbu Uzel, Yvonne R. Shea, David E. Kleiner, Steven M. Holland, Theo Heller

Journal:

Gastrointestinal Endoscopy

Year:

2011

Language:

english

File:

PDF, 1.09 MB

english, 2011

23

Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome

Sekhsaria, Vibhav, Dodd, Lori E., Hsu, Amy P., Heimall, Jennifer R., Freeman, Alexandra F., Ding, Li, Holland, Steven M., Uzel, Gulbu

Journal:

Journal of Allergy and Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 486 KB

english, 2011

24

Dysfunctional LAD-1 Neutrophils and Colitis

Gülbû Uzel, David E. Kleiner, Douglas B. Kuhns, Steven M. Holland

Journal:

Gastroenterology

Year:

2001

Language:

english

File:

PDF, 645 KB

english, 2001

25

Residual NADPH Oxidase and Survival in Chronic Granulomatous Disease

Kuhns, Douglas B., Alvord, W. Gregory, Heller, Theo, Feld, Jordan J., Pike, Kristen M., Marciano, Beatriz E., Uzel, Gulbu, DeRavin, Suk See, Priel, Debra A. Long, Soule, Benjamin P., Zarember, Kol A.,

Journal:

Boston Medical and Surgical Journal

Year:

2010

Language:

english

File:

PDF, 1.91 MB

english, 2010

26

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

Li, Feng-Yen, Chaigne-Delalande, Benjamin, Kanellopoulou, Chrysi, Davis, Jeremiah C., Matthews, Helen F., Douek, Daniel C., Cohen, Jeffrey I., Uzel, Gulbu, Su, Helen C., Lenardo, Michael J.

Journal:

Year:

2011

Language:

english

File:

PDF, 1.58 MB

english, 2011

27

273

Wang, Hong-Ying, Ma, Chi A., Zhao, Yongge, Fan, Xiying, Zhou, Qing, Edmonds, Pamela, Uzel, Gulbu, Oliveria, Joao Bosco, Orange, Jordan, Jain, Ashish

Journal:

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

28

Fever and leg pain in a 42-month-old

Waibel, Kirk H., Regis, David P., Uzel, Gulbu, Rosenzweig, Sergio D., Holland, Steven M.

Journal:

Annals of Allergy, Asthma & Immunology

Year:

2002

Language:

english

File:

PDF, 357 KB

english, 2002

29

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

Jing, Huie, Zhang, Qian, Zhang, Yu, Hill, Brenna J., Dove, Christopher G., Gelfand, Erwin W., Atkinson, T. Prescott, Uzel, Gulbu, Matthews, Helen F., Mustillo, Peter J., Lewis, David B., Kavadas, Foti

Journal:

Journal of Allergy and Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 1.56 MB

english, 2014

30

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

Uzel, Gulbu, Sampaio, Elizabeth P., Lawrence, Monica G., Hsu, Amy P., Hackett, Mary, Dorsey, Morna J., Noel, Richard J., Verbsky, James W., Freeman, Alexandra F., Janssen, Erin, Bonilla, Francisco A.,

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 2.54 MB

english, 2013

31

IL-21 Receptor Mutation in Humans Leads to Disseminated Cryptosporidiosis, Antibody Defects, and Abnormal B and T Cell Function

Lawrence, Monica G., Siegel, Andrea, DeRavin, Suk See, Hanson, Eric Paul, Moir, Susan, Klein, Christoph, Holland, Steven M., Uzel, Gulbu, Milner, Joshua D.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 40 KB

english, 2013

32

STAT3 is a central regulator of lymphocyte differentiation and function

Kane, Alisa, Deenick, Elissa K, Ma, Cindy S, Cook, Matthew C, Uzel, Gulbu, Tangye, Stuart G

Journal:

Current Opinion in Immunology

Year:

2014

Language:

english

File:

PDF, 645 KB

english, 2014

33

Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2

Gottlieb, Chloe, Li, Zhuqing, Uzel, Gulbu, Nussenblatt, Robert B, Sen, H Nida

Journal:

Ophthalmic Genetics

Year:

2010

Language:

english

File:

PDF, 910 KB

english, 2010

34

Identification of a Novel Mutation inMAGT1and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease

Dhalla, Fatima, Murray, Sarah, Sadler, Ross, Chaigne-Delalande, Benjamin, Sadaoka, Tomohiko, Soilleux, Elizabeth, Uzel, Gulbu, Miller, Joanne, Collins, Graham Peter, Hatton, Christian Simon Ross, Bhol

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 2.48 MB

english, 2015

35

Gastrointestinal Fistulae in Chronic Granulomatous Disease

Gopal, Lakshmi, Forbes, Joanne, Uzel, Gulbu, Holland, Steven M, Heller, Theo

Journal:

American Journal of Gastroenterology

Year:

2009

Language:

english

File:

PDF, 130 KB

english, 2009

36

Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1

Guan, Siyu, Tan, Suet-Mien, Li, Yan, Torres, Jaume, Uzel, Gulbu, Xiang, Liming, Law, S.K. Alex

Journal:

Blood Cells, Molecules, and Diseases

Year:

2015

Language:

english

File:

PDF, 986 KB

english, 2015

37

Combined Immunodeficiency Associated with DOCK8 Mutations

Zhang, Qian, Davis, Jeremiah C., Lamborn, Ian T., Freeman, Alexandra F., Jing, Huie, Favreau, Amanda J., Matthews, Helen F., Davis, Joie, Turner, Maria L., Uzel, Gulbu, Holland, Steven M., Su, Helen C

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 1.51 MB

english, 2009

38

Human T follicular helper cells in primary immunodeficiencies

Ma, Cindy S., Uzel, Gulbu, Tangye, Stuart G.

Journal:

Current Opinion in Pediatrics

Year:

2014

Language:

english

File:

PDF, 306 KB

english, 2014

39

Complications of Tumor Necrosis Factor–α Blockade in Chronic Granulomatous Disease–Related Colitis

Uzel, Gulbu, Orange, Jordan S., Poliak, Nina, Marciano, Beatriz E., Heller, Theo, Holland, Steven M.

Journal:

Clinical Infectious Diseases

Year:

2010

Language:

english

File:

PDF, 311 KB

english, 2010

40

Mo1240 Spleen and Liver Volumes Are Strongly Correlated With Elevated Hepatic Venous Pressure Gradient in Patients With Non-Cirrhotic Portal Hypertension

Etzion, Ohad, Adebogun, Akeem, Eccleston, Jason, Gharib, Ahmed M., Kleiner, David E., Gunay-Aygun, Meral, Childs, Richard, Rosenzweig, Sergio, Fuss, Ivan J., Malech, Harry, Strobe, Warren, Uzel, Gulbu

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 711 KB

english, 2015

41

Pyoderma Gangrenosum–Like Ulcer in a Patient With X-Linked Agammaglobulinemia

Murray, Patrick R., Jain, Ashish, Uzel, Gulbu, Ranken, Raymond, Ivy, Cristina, Blyn, Lawrence B., Ecker, David J., Sampath, Rangarajan, Lee, Chyi-Chia Richard, Turner, Maria L.

Journal:

Archives of Dermatology

Year:

2010

Language:

english

File:

PDF, 419 KB

english, 2010

42

Subgingival Microbial Communities in Leukocyte Adhesion Deficiency and Their Relationship with Local Immunopathology

Moutsopoulos, Niki M., Chalmers, Natalia I., Barb, Jennifer J., Abusleme, Loreto, Greenwell-Wild, Teresa, Dutzan, Nicolas, Paster, Bruce J., Munson, Peter J., Fine, Daniel H., Uzel, Gulbu, Holland, St

Journal:

Year:

2015

Language:

english

File:

PDF, 2.45 MB

english, 2015

43

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia (XMEN)

Li, Feng-Yen, Chaigne-Delalande, Benjamin, Rao, V Koneti, Zhang, Yu, Matthews, Helen, Kuijpers, Taco (TW), Su, Helen, Uzel, Gulbu, Lenardo, Michael J

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 257 KB

english, 2015

44

IL2RGReversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Hsu, Amy P., Pittaluga, Stefania, Martinez, Bianca, Rump, Amy P., Raffeld, Mark, Uzel, Gulbu, Puck, Jennifer M., Freeman, Alexandra F., Holland, Steven M.

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

45

6-Year-Old Boy with Recurrent Sinopulmonary Infections and Lymphadenopathy

Lawrence, Monica G., Uzel, Gulbu

Journal:

The Journal of Allergy and Clinical Immunology: In Practice

Year:

2015

Language:

english

File:

PDF, 304 KB

english, 2015

46

Pathologic findings in NEMO deficiency: A surgical and autopsy survey

Huppmann, Alison R., Leiding, Jennifer W., Hsu, Amy P., Raffeld, Mark, Uzel, Gulbu, Pittaluga, Stefania, Holland, Steven M.

Journal:

Pediatric and Developmental Pathology

Year:

2015

Language:

english

File:

PDF, 62.37 MB

english, 2015

47

Leptin Replacement Therapy Modulates Circulating Lymphocyte Subsets and Cytokine Responsiveness in Severe Lipodystrophy

Oral, Elif Arioglu, Javor, Edward D., Ding, Li, Uzel, Gulbu, Cochran, Elaine K., Young, Janice Ryan, DePaoli, Alex M., Holland, Steven M., Gorden, Phillip

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 191 KB

english, 2006

48

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy

Khangura, Sajneet K., Kamal, Natasha, Ho, Nancy, Quezado, Martha, Zhao, Xiongce, Marciano, Beatriz, Simpson, Jennifer, Zerbe, Christa, Uzel, Gulbu, Yao, Michael D., DeRavin, Suk See, Hadigan, Colleen,

Journal:

Clinical Gastroenterology and Hepatology

Year:

2015

Language:

english

File:

PDF, 2.64 MB

english, 2015

49

Tor-dependent, Post-transcriptional Regulation of Autophagy: Implications for Cancer Therapeutics

Hu, Guowu, McQuiston, Travis, Bernard, Amélie, Park, Yoon-Dong, Qiu, Jin, Vural, Ali, Zhang, Nannan, Waterman, Scott R., Blewett, Nathan H., Myers, Timothy G., Kehrl, John H., Uzel, Gulbu, Klionsky, D

Journal:

Molecular & Cellular Oncology

Year:

2015

Language:

english

File:

PDF, 1.82 MB

english, 2015

50

X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation

Mancini, Anthony J., Lawley, Leslie P., Uzel, Gulbu

Journal:

Archives of Dermatology

Year:

2008

Language:

english

File:

PDF, 327 KB

english, 2008