Gulbu Uzel

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc 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
  2. pmc A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency
    Hong 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
  3. pmc Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis
    Gulbu 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
  4. ncbi request reprint The range of defects associated with nuclear factor kappaB essential modulator
    Gulbu 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
  5. pmc Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis
    Elizabeth P Sampaio
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    J Allergy Clin Immunol 131:1624-34. 2013
  6. pmc Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
    Gulbu Uzel
    Laboratory of Clinical Infectious Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1684, USA
    J Allergy Clin Immunol 131:1611-23. 2013
  7. pmc Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
    Amy 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
  8. ncbi request reprint A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states
    Sergio 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
  9. pmc Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK
    Hong 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
  10. pmc Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans
    Hye Sun Kuehn
    Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD
    Blood 121:3117-25. 2013

Detail Information

Publications33

  1. pmc 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...
  2. pmc A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency
    Hong 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
    ....
  3. pmc Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis
    Gulbu 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...
  4. ncbi request reprint The range of defects associated with nuclear factor kappaB essential modulator
    Gulbu 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...
  5. pmc Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis
    Elizabeth P Sampaio
    Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    J Allergy Clin Immunol 131:1624-34. 2013
    ..Dominant gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1) have been associated with chronic mucocutaneous candidiasis...
  6. pmc Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
    Gulbu Uzel
    Laboratory of Clinical Infectious Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1684, USA
    J Allergy Clin Immunol 131:1611-23. 2013
    ..The hypermorphic mutations are also associated with arterial aneurysms, autoimmunity, and squamous cell cancers...
  7. pmc Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
    Amy 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...
  8. ncbi request reprint A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states
    Sergio 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...
  9. pmc Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK
    Hong 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...
  10. pmc Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans
    Hye Sun Kuehn
    Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD
    Blood 121:3117-25. 2013
    ..In summary, homozygous PRKCD mutation results in B-cell hyperproliferation and defective apoptosis with consequent lymphocyte accumulation and autoantibody production in humans, and disrupts natural killer cell function...
  11. pmc Combined immunodeficiency associated with DOCK8 mutations
    Qian 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...
  12. doi request reprint Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D
    Benjamin Chaigne-Delalande
    Molecular Development of the Immune System Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Science 341:186-91. 2013
    ..Moreover, these findings reveal a specific molecular function of free basal intracellular Mg(2+) in eukaryotic cells. ..
  13. doi request reprint A novel STAT1 mutation associated with disseminated mycobacterial disease
    Elizabeth 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...
  14. pmc Corticosteroid therapy for liver abscess in chronic granulomatous disease
    Jennifer 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...
  15. pmc Anti-CD20 (rituximab) therapy for anti-IFN-γ autoantibody-associated nontuberculous mycobacterial infection
    Sarah 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
    ....
  16. pmc Corticosteroids in the treatment of severe nocardia pneumonia in chronic granulomatous disease
    Alexandra 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
    ....
  17. pmc Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2
    Chloe 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...
  18. pmc Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
    Donald 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...
  19. pmc CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome
    Xiying 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...
  20. ncbi request reprint STAT3 mutations in the hyper-IgE syndrome
    Steven 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...
  21. pmc New Rapid Scheme for Distinguishing the Subspecies of the Mycobacterium abscessus Group and Identifying Mycobacterium massiliense Isolates with Inducible Clarithromycin Resistance
    Shamira J Shallom
    Microbiology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
    J Clin Microbiol 51:2943-9. 2013
    ..bolletii and the assessment of inducible clarithromycin resistance. This method can be easily integrated into a routine workflow to provide subspecies-level identification within 24 h after isolation of the M. abscessus group. ..
  22. doi request reprint Streptococcal infections in patients with chronic granulomatous disease: case report and review of the literature
    E 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...
  23. pmc Analysis of adhesion molecules, target cells, and role of IL-2 in human FOXP3+ regulatory T cell suppressor function
    Dat 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...
  24. pmc Residual NADPH oxidase and survival in chronic granulomatous disease
    Douglas 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...
  25. ncbi request reprint Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency
    Mitchell 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...
  26. ncbi request reprint Leptin replacement therapy modulates circulating lymphocyte subsets and cytokine responsiveness in severe lipodystrophy
    Elif 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...
  27. pmc Second messenger role for Mg2+ revealed by human T-cell immunodeficiency
    Feng 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...
  28. pmc Pyoderma gangrenosum-like ulcer in a patient with X-linked agammaglobulinemia: identification of Helicobacter bilis by mass spectrometry analysis
    Patrick 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...
  29. ncbi request reprint White blood cell defects: molecular discoveries and clinical management
    Gulbu 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...
  30. ncbi request reprint Approach to primary immunodeficiency
    Kelly K Newhall
    Northwestern University, Department of Medicine, USA
    Allergy Asthma Proc 25:S59-60. 2004
  31. ncbi request reprint Cytokines in juvenile dermatomyositis pathophysiology: potential and challenge
    Gulbu Uzel
    Feinberg School of Medicine, Northwestern University, Department of Pediatrics, Chicago, Illinois, USA
    Curr Opin Rheumatol 15:691-7. 2003
    ..Cytokines are criticalmediators of the immune response. This review focuses on cytokine-specific information from children with juvenile dermatomyositis, and includes pertinent data from adults with polymyositis and dermatomyositis...
  32. ncbi request reprint Fever and leg pain in a 42-month-old
    Kirk H Waibel
    Department of Allergy and Immunology, Walter Reed Army Medical Center, Washington, DC, USA
    Ann Allergy Asthma Immunol 89:239-43. 2002
  33. doi request reprint X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis
    Anthony 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...