Research Topics
Genomes and Genes | Gulbu UzelSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
|
Detail Information
Publications
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)Gulbu Uzel
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases NIAID, National Institutes of Health NIH, Bethesda, MD, USA
Blood 111:209-18. 2008..The discovery of 3 cases of reversion mutations in LAD-1 at one center suggests that this may be a relatively common event in this rare disease...- A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiencyHong Ying Wang
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Hum Mutat 31:1080-8. 2010.... 
The range of defects associated with nuclear factor kappaB essential modulatorGulbu Uzel
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1684, USA
Curr Opin Allergy Clin Immunol 5:513-8. 2005..The purpose of this review is to explore the range of immunologic defects associated with mutations in NEMO, a key regulatory molecule in the NFkappaB pathway...- Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitisGulbu Uzel
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
Clin Infect Dis 51:1429-34. 2010..Management of CGD colitis is a challenge because standard immunosuppressive therapy increases the risk of infection in already immunocompromised hosts... - A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous statesSergio D Rosenzweig
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
J Immunol 173:4000-8. 2004..The mutant construct 791delG exerts dominant negative effects on IFN-gamma signaling without cell surface display, suggesting that it is acting on pathways other than those involved in cell surface recognition of ligand... - Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndromeAmy P Hsu
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases NIAID, National Institutes of Health NIH, Bethesda, MD 20892 1684, USA
Blood 118:2653-5. 2011..Thus, GATA2 joins RUNX1 and CEBPA not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy... - Combined immunodeficiency associated with DOCK8 mutationsQian Zhang
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
N Engl J Med 361:2046-55. 2009..Recurrent sinopulmonary and cutaneous viral infections with elevated serum levels of IgE are features of some variants of combined immunodeficiency. The genetic causes of these variants are unknown... 
A novel STAT1 mutation associated with disseminated mycobacterial diseaseElizabeth P Sampaio
Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, MD, USA
J Clin Immunol 32:681-9. 2012..M654K exerts a dominant negative effect on IFN-γ related immunity and is recessive for IFN-α induced immune function...- Corticosteroid therapy for liver abscess in chronic granulomatous diseaseJennifer W Leiding
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
Clin Infect Dis 54:694-700. 2012..Corticosteroids may have a role in treatment of Staphylococcus aureus liver abscesses in CGD... - Anti-CD20 (rituximab) therapy for anti-IFN-γ autoantibody-associated nontuberculous mycobacterial infectionSarah K Browne
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Blood 119:3933-9. 2012.... - Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAKHong Ying Wang
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases NIAID, National Institutes of Health NIH, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 110:5127-32. 2013..As BAFF mediates T-cell-independent isotype switching and B-cell survival, our data implicate TWEAK as a disease-susceptibility gene for a humoral immunodeficiency... - Corticosteroids in the treatment of severe nocardia pneumonia in chronic granulomatous diseaseAlexandra F Freeman
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases NIAID, NIH, Bethesda, MD, USA
Pediatr Infect Dis J 30:806-8. 2011.... - Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2Chloe Gottlieb
Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1863, USA
Ophthalmic Genet 31:24-9. 2010..Despite features of T cell dysfunction, infection and autoimmunity (including juvenile idiopathic arthritis), uveitis has not been described in patients with DiGeorge syndrome... - Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasiaDonald C Vinh
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Blood 115:1519-29. 2010..This novel clinical syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern... - CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndromeXiying Fan
Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA
Clin Immunol 143:152-61. 2012..This study demonstrates that CP-870,893 suppressed oocysts shedding in XHM patients with biliary cryptosporidiosis. The continued study of CD40 agonists in XHM is warranted... - STAT3 mutations in the hyper-IgE syndromeSteven M Holland
National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA
N Engl J Med 357:1608-19. 2007..Inheritance is autosomal dominant; sporadic cases are also found... - Streptococcal infections in patients with chronic granulomatous disease: case report and review of the literatureE Liana Falcone
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, CRC, Rm B3 4141, MSC 1684, Bethesda, MD 20892 1684, USA
J Clin Immunol 32:649-52. 2012..This case and literature review provide insight into this organism's pathogenesis, including in CGD... - Analysis of adhesion molecules, target cells, and role of IL-2 in human FOXP3+ regulatory T cell suppressor functionDat Q Tran
Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
J Immunol 182:2929-38. 2009..Taken together, one of the mechanisms of Treg-mediated suppression functions across species and mediates an LFA-1/ICAM-1-dependent interaction between Tregs and DCs... - Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiencyMitchell E Horwitz
National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD, USA
Blood 102:2692-4. 2003..Patients with IFNgammaR1 deficiency should receive transplants before developing refractory mycobacterial infections... - Second messenger role for Mg2+ revealed by human T-cell immunodeficiencyFeng Yen Li
Molecular Development Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Nature 475:471-6. 2011..These observations reveal a role for Mg(2+) as an intracellular second messenger coupling cell-surface receptor activation to intracellular effectors and identify MAGT1 as a possible target for novel therapeutics... - Leptin replacement therapy modulates circulating lymphocyte subsets and cytokine responsiveness in severe lipodystrophyElif Arioglu Oral
Clinical Endocrinology Branch, National Institute of Diabetes, Digestive and Kidney Diseases NIH, 10 Center Drive, MSC 1612, Room CRC 65940, Bethesda, MD 20892 1612, USA
J Clin Endocrinol Metab 91:621-8. 2006..We conducted this study to understand the role of leptin therapy in immunomodulation... - Residual NADPH oxidase and survival in chronic granulomatous diseaseDouglas B Kuhns
Clinical Services Program, SAIC Frederick, Frederick, Maryland, USA
N Engl J Med 363:2600-10. 2010..We hypothesized that residual ROI production might be linked to survival in patients with chronic granulomatous disease... - Pyoderma gangrenosum-like ulcer in a patient with X-linked agammaglobulinemia: identification of Helicobacter bilis by mass spectrometry analysisPatrick R Murray
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA
Arch Dermatol 146:523-6. 2010..We confirmed the presence of this organism in a patient's culture by using a novel application of gene amplification polymerase chain reaction and electrospray ionization time-of-flight mass spectrometry... - White blood cell defects: molecular discoveries and clinical managementGulbu Uzel
Laboratory of Host Defenses, NIAID, NIH, 10 Center Drive, MSC 1886, Bethesda, MD 20892-1886, USA
Curr Allergy Asthma Rep 2:385-91. 2002..Neutrophil-specific granule deficiency and neutrophil elastase deficiency are discussed, the latter being the molecular defect in both cyclic neutropenia and in some sporadic cases of severe congenital neutropenia... - Approach to primary immunodeficiencyKelly K Newhall
Northwestern University, Department of Medicine, USA
Allergy Asthma Proc 25:S59-60. 2004 - Cytokines in juvenile dermatomyositis pathophysiology: potential and challengeGulbu Uzel
Feinberg School of Medicine, Northwestern University, Department of Pediatrics, Chicago, Illinois, USA
Curr Opin Rheumatol 15:691-7. 2003..The muscle fibers themselves can regulate local inflammation by production of tumor necrosis factor-alpha, interleukin-15 and interleukin-1alpha, and transforming growth factor-beta... - X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosisAnthony J Mancini
Division of Dermatology, Children s Memorial Hospital, 2300 Children s Plaza No 107, Chicago, IL 60614, USA
Arch Dermatol 144:342-6. 2008..Boys with NEMO mutations often present with serious infections, but the NEMO mutations are rarely diagnosed early in infancy. Cutaneous features in these patients are poorly elucidated... - Fever and leg pain in a 42-month-oldKirk H Waibel
Department of Allergy and Immunology, Walter Reed Army Medical Center, Washington, DC, USA
Ann Allergy Asthma Immunol 89:239-43. 2002