Publications by authors named "Gulbu Uzel"

100Publications

Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder.

J Clin Invest 2020 Oct;130(10):5551-5561

Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disease (NIAID), NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1172/JCI135947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524497PMC
October 2020

Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency.

J Clin Immunol 2020 02 18;40(2):412-414. Epub 2020 Jan 18.

Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Stanford School of Medicine, 269 Campus Drive, CCSR Suite 3215, Stanford, CA, 94305-5366, USA.

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http://dx.doi.org/10.1007/s10875-020-00748-zDOI Listing
February 2020

Primary immunodeficiencies: novel genes and unusual presentations.

Hematology Am Soc Hematol Educ Program 2019 12;2019(1):443-448

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1182/hematology.2019000051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913429PMC
December 2019

Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Front Immunol 2019 10;10:1433. Epub 2019 Jul 10.

Laboratory of Clinical Immunology and Microbiology, Immunopathogenesis Section, National Institute of Allergy and Immunology, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2019.01433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635460PMC
June 2020

PI3K pathway defects leading to immunodeficiency and immune dysregulation.

J Allergy Clin Immunol 2019 05;143(5):1676-1687

Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193042
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http://dx.doi.org/10.1016/j.jaci.2019.03.017DOI Listing
May 2019

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

J Clin Immunol 2019 02 25;39(2):148-158. Epub 2019 Mar 25.

Immunology, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, NSW, 2010, Australia.

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http://dx.doi.org/10.1007/s10875-019-00612-9DOI Listing
February 2019

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4 T cells.

J Allergy Clin Immunol 2019 07 6;144(1):236-253. Epub 2019 Feb 6.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.01.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612302PMC
July 2019

Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered.

J Clin Immunol 2019 01 23;39(1):1-3. Epub 2018 Nov 23.

Experimental Transplantation and Immunology Branch, National Cancer Institute (NCI), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA.

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http://link.springer.com/10.1007/s10875-018-0573-0
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http://dx.doi.org/10.1007/s10875-018-0573-0DOI Listing
January 2019

Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8 T Cell Survival, Differentiation, and Function.

Front Immunol 2018 2;9:1758. Epub 2018 Aug 2.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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https://www.frontiersin.org/article/10.3389/fimmu.2018.01758
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http://dx.doi.org/10.3389/fimmu.2018.01758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082933PMC
October 2019

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.

J Allergy Clin Immunol 2019 01 22;143(1):276-291.e6. Epub 2018 May 22.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales Sydney, Darlinghurst, Australia; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.030DOI Listing
January 2019

Liver disturbances in activated phosphoinositide 3-kinase δ syndrome.

J Allergy Clin Immunol Pract 2018 Sep - Oct;6(5):1763-1765. Epub 2018 Feb 16.

Translational Hepatology Section, Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md.

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http://dx.doi.org/10.1016/j.jaip.2018.01.005DOI Listing
November 2019

Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.

J Allergy Clin Immunol 2018 08 10;142(2):605-617.e7. Epub 2018 Jan 10.

Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.11.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109967PMC
August 2018

Risks of Ruxolitinib in Gain-of-Function-Associated Severe Fungal Disease.

Open Forum Infect Dis 2017 22;4(4):ofx202. Epub 2017 Sep 22.

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Immunology, National Institutes of Health, Bethesda, Maryland.

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https://academic.oup.com/ofid/article/doi/10.1093/ofid/ofx20
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http://dx.doi.org/10.1093/ofid/ofx202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5714179PMC
September 2017

Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.

Clin Case Rep 2017 12 6;5(12):2066-2070. Epub 2017 Nov 6.

Laboratory of Clinical Infectious Diseases National Institute of Allergy and Infectious Diseases Bethesda Maryland USA.

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http://doi.wiley.com/10.1002/ccr3.1257
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http://dx.doi.org/10.1002/ccr3.1257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715409PMC
December 2017

Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes.

J Pediatr Hematol Oncol 2018 07;40(5):e319-e322

Division of Hematology, CHOC Children's Hospital, Orange, CA.

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http://dx.doi.org/10.1097/MPH.0000000000001003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984070PMC
July 2018

Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4 Lymphopenia and Secondary Germline or Acquired Defects.

Open Forum Infect Dis 2017 7;4(2):ofx082. Epub 2017 Jun 7.

Laboratory of Clinical Infectious Diseases, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH).

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http://dx.doi.org/10.1093/ofid/ofx082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461987PMC
June 2017

Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.

N Engl J Med 2017 03;376(12):1141-1146

From the National Institute of Dental and Craniofacial Research (N.M.M., T.W., N.D., L.B., G.D.), the Laboratory of Clinical Infectious Diseases (C.S.Z., G.U., S.M.H.), and the Laboratory of Immunoregulation (A.L.), National Institute of Allergy and Infectious Diseases, and the Wound-Ostomy Care Nursing Service, Clinical Center (K.C.A.) - all at the National Institutes of Health, Bethesda, MD; the Pediatric Onco-Hematology and Bone Marrow Transplantation Unit, Children's Hospital, Spedali Civili of Brescia, Brescia, Italy (Lucia D. Notarangelo); the Department of Microbiology, School of Dental Medicine, University of Pennsylvania, Philadelphia (G.H.); and the Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston (Luigi D. Notarangelo).

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http://dx.doi.org/10.1056/NEJMoa1612197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494261PMC
March 2017

Outcome of patients with NEMO deficiency following allogeneic hematopoietic cell transplant.

J Allergy Clin Immunol 2017 03 12;139(3):1040-1043.e2. Epub 2016 Oct 12.

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jaci.2016.08.039DOI Listing
March 2017

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

J Allergy Clin Immunol 2017 03 30;139(3):1032-1035.e6. Epub 2016 Sep 30.

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.08.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5342918PMC
March 2017

Dedicator of cytokinesis 8-deficient CD4 T cells are biased to a T2 effector fate at the expense of T1 and T17 cells.

J Allergy Clin Immunol 2017 Mar 20;139(3):933-949. Epub 2016 Aug 20.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.07.016DOI Listing
March 2017

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Blood 2016 08 14;128(8):1037-42. Epub 2016 Jul 14.

Molecular Development of the Immune System Section, Laboratory of Immunology, Clinical Genomics Program.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2016-04-71
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http://dx.doi.org/10.1182/blood-2016-04-712612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000841PMC
August 2016

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

J Allergy Clin Immunol 2016 09 24;138(3):903-905. Epub 2016 Apr 24.

Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.02.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391257PMC
September 2016

TOR-dependent post-transcriptional regulation of autophagy.

Autophagy 2015 ;11(12):2390-2

a Laboratory of Clinical Infectious Diseases; National Institute of Allergy and Infectious Diseases; National Institutes of Health ; Bethesda , MD USA.

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http://dx.doi.org/10.1080/15548627.2015.1091142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835197PMC
May 2016

Tor-dependent post-transcriptional regulation of autophagy: Implications for cancer therapeutics.

Mol Cell Oncol 2016 16;3(5):e1078923. Epub 2015 Sep 16.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1080/23723556.2015.1078923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068182PMC
September 2015

Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey.

Pediatr Dev Pathol 2015 Sep-Oct;18(5):387-400. Epub 2015 Jul 31.

2 Laboratory of Clinical Infectious Disease, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.2350/15-05-1631-OA.1DOI Listing
February 2016

The role of transcriptional 'futile cycles' in autophagy and microbial pathogenesis.

Microb Cell 2015 Jul 30;2(8):302-304. Epub 2015 Jul 30.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA, 20892.

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http://dx.doi.org/10.15698/mic2015.08.221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5349103PMC
July 2015

A conserved mechanism of TOR-dependent RCK-mediated mRNA degradation regulates autophagy.

Nat Cell Biol 2015 Jul 22;17(7):930-942. Epub 2015 Jun 22.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA, 20892.

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http://dx.doi.org/10.1038/ncb3189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528364PMC
July 2015

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

J Clin Immunol 2015 Jul 17;35(5):449-53. Epub 2015 Jun 17.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, Laboratory of Clinical Infectious Diseases, Bethesda, MD, USA.

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http://link.springer.com/10.1007/s10875-015-0174-0
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http://dx.doi.org/10.1007/s10875-015-0174-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504777PMC
July 2015

6-year-old boy with recurrent sinopulmonary infections and lymphadenopathy.

J Allergy Clin Immunol Pract 2015 May-Jun;3(3):461-3.e1; quiz 464-5

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2014.10.017DOI Listing
February 2016

Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology.

PLoS Pathog 2015 Mar 5;11(3):e1004698. Epub 2015 Mar 5.

National Institute of Allergy and Infectious Diseases, Laboratory of Clinical Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.ppat.1004698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351202PMC
March 2015

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

Blood Cells Mol Dis 2015 Feb 28;54(2):177-82. Epub 2014 Nov 28.

School of Biological Sciences, Nanyang Technological University, Singapore. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10799796140013
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http://dx.doi.org/10.1016/j.bcmd.2014.11.005DOI Listing
February 2015

Human T follicular helper cells in primary immunodeficiencies.

Curr Opin Pediatr 2014 Dec;26(6):720-6

aImmunology Division, Garvan Institute of Medical Research, Darlinghurst bSt Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia cLaboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000157DOI Listing
December 2014

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

Eur J Hum Genet 2015 Jun 10;23(6). Epub 2014 Sep 10.

Molecular Development of the Immune System Section, Clinical Genomics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.179
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http://dx.doi.org/10.1038/ejhg.2014.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795072PMC
June 2015

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.

J Allergy Clin Immunol 2014 Jun 3;133(6):1667-75. Epub 2014 May 3.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749140044
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http://dx.doi.org/10.1016/j.jaci.2014.03.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132167PMC
June 2014

STAT3 is a central regulator of lymphocyte differentiation and function.

Curr Opin Immunol 2014 Jun 6;28:49-57. Epub 2014 Mar 6.

Immunology and Immunodeficiency Group, Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.coi.2014.01.015DOI Listing
June 2014

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

Blood 2014 Apr 18;123(14):2148-52. Epub 2014 Feb 18.

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;

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http://dx.doi.org/10.1182/blood-2013-11-538686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975255PMC
April 2014

Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.

Proc Natl Acad Sci U S A 2013 Mar 14;110(13):5127-32. Epub 2013 Mar 14.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.1221211110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612633PMC
March 2013

Rapid activation receptor- or IL-2-induced lytic granule convergence in human natural killer cells requires Src, but not downstream signaling.

Blood 2013 Apr 4;121(14):2627-37. Epub 2013 Feb 4.

Graduate Program in Cell Biology and Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1182/blood-2012-06-437012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617630PMC
April 2013

Streptococcal infections in patients with chronic granulomatous disease: case report and review of the literature.

J Clin Immunol 2012 Aug 29;32(4):649-52. Epub 2012 Feb 29.

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.

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http://dx.doi.org/10.1007/s10875-012-9661-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103909PMC
August 2012

Corticosteroid therapy for liver abscess in chronic granulomatous disease.

Clin Infect Dis 2012 Mar 9;54(5):694-700. Epub 2011 Dec 9.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1093/cid/cir896DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3275758PMC
March 2012

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

Nature 2011 Jul 27;475(7357):471-6. Epub 2011 Jul 27.

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.

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http://dx.doi.org/10.1038/nature10246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159560PMC
July 2011

GI involvement in disseminated Mycobacterium genavense: endoscopy and histology.

Gastrointest Endosc 2011 Sep 26;74(3):688-90. Epub 2011 Jul 26.

Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.gie.2011.04.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090349PMC
September 2011

Corticosteroids in the treatment of severe nocardia pneumonia in chronic granulomatous disease.

Pediatr Infect Dis J 2011 Sep;30(9):806-8

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1097/INF.0b013e318218181dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3151540PMC
September 2011

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis.

Clin Infect Dis 2011 Feb;52(4):e99-e102

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1093/cid/ciq215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060907PMC
February 2011