Steven M Holland

Steven M Holland

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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

STAT3 modulates reprogramming efficiency of human somatic cells; Insights from autosomal dominant Hyper IgE syndrome caused by STAT3 mutations.

Biol Open 2020 Jun 24. Epub 2020 Jun 24.

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA

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http://dx.doi.org/10.1242/bio.052662DOI Listing
June 2020

Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease.

J Clin Immunol 2020 May 20;40(4):619-624. Epub 2020 Apr 20.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Dr., Rm. 6-3754, MSC 1763, Bethesda, MD, 20892-1456, USA.

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http://dx.doi.org/10.1007/s10875-020-00772-zDOI Listing
May 2020

A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.

Sci Rep 2020 May 20;10(1):8305. Epub 2020 May 20.

Office of the Clinical Director, Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/s41598-020-64852-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239896PMC
May 2020

Brain Abscess as Severe Presentation of Specific Granule Deficiency.

Front Pediatr 2020 22;8:117. Epub 2020 Apr 22.

Division of Allergy and Immunology, Department of Pediatrics, University of South Florida, St. Petersburg, FL, United States.

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http://dx.doi.org/10.3389/fped.2020.00117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188777PMC
April 2020

Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.

J Allergy Clin Immunol 2020 Mar 2;145(3):1017-1021. Epub 2019 Dec 2.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.028DOI Listing
March 2020

The effects of sildenafil on ciliary beat frequency in patients with pulmonary non-tuberculous mycobacteria disease: phase I/II trial.

BMJ Open Respir Res 2020 Mar;7(1)

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

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http://dx.doi.org/10.1136/bmjresp-2020-000574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069259PMC
March 2020

Diapedesis-Induced Integrin Signaling via LFA-1 Facilitates Tissue Immunity by Inducing Intrinsic Complement C3 Expression in Immune Cells.

Immunity 2020 Mar;52(3):513-527.e8

Complement and Inflammation Research Section (CIRS), National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King's College London, London SE1 9RT, UK; Institute for Systemic Inflammation Research, University of Lübeck, Lübeck 23562, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2020.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7111494PMC
March 2020

Gastrointestinal Complications in Chronic Granulomatous Disease.

Methods Mol Biol 2019 ;1982:573-586

Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1007/978-1-4939-9424-3_34DOI Listing
January 2020

Neurotuberculosis: Control of Steroid-Refractory Paradoxical Inflammatory Reaction With Ruxolitinib.

Open Forum Infect Dis 2019 Oct 26;6(10):ofz422. Epub 2019 Oct 26.

Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1093/ofid/ofz422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821379PMC
October 2019

Tuberculous Meningitis in a Patient with Cushing's Disease: Glucocorticoid-mediated Immunosuppression: Case Report, and Review of the Literature.

Neurol India 2019 Jul-Aug;67(4):1128-1130

Surgical Neurology Branch, National Institute of Neurological Diseases and Stroke, Bethesda, Maryland, USA.

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http://dx.doi.org/10.4103/0028-3886.266237DOI Listing
September 2019

Tamoxifen restores extracellular trap formation in neutrophils from patients with chronic granulomatous disease in a reactive oxygen species-independent manner.

J Allergy Clin Immunol 2019 08 27;144(2):597-600.e3. Epub 2019 Apr 27.

Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks, ND. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193054
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http://dx.doi.org/10.1016/j.jaci.2019.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688929PMC
August 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

Pediatric CNS-isolated hemophagocytic lymphohistiocytosis.

Neurol Neuroimmunol Neuroinflamm 2019 05 8;6(3):e560. Epub 2019 Apr 8.

Department of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.

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http://dx.doi.org/10.1212/NXI.0000000000000560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467688PMC
May 2019

The microbiome and immunodeficiencies: Lessons from rare diseases.

J Autoimmun 2019 03 28;98:132-148. Epub 2019 Jan 28.

CNR-IRGB, Milan Unit, 20133, Milan, Italy; Humanitas Clinical and Research Center IRCCS, Rozzano, 20089, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08968411183064
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http://dx.doi.org/10.1016/j.jaut.2019.01.008DOI Listing
March 2019

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1970-1985.e4. Epub 2019 Mar 12.

University of South Florida and Johns Hopkins All Children's Hospital, Saint Petersburg, Fla; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612449PMC
March 2019

A review of innate and adaptive immunity to coccidioidomycosis.

Med Mycol 2019 Feb;57(Supplement_1):S85-S92

Infectious Diseases Section, VA Healthcare San Diego, California, USA.

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http://dx.doi.org/10.1093/mmy/myy146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347076PMC
February 2019

Treatment of Posaconazole-Induced Peripheral Neuropathy With Methylprednisolone and Magnesium Infusions: A Case Report.

Open Forum Infect Dis 2019 Feb 23;6(2):ofz031. Epub 2019 Feb 23.

Fungal Pathogenesis Section, LCIM, NIAID, NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1093/ofid/ofz031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386815PMC
February 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

MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation.

J Clin Immunol 2019 01 26;39(1):4-6. Epub 2018 Nov 26.

Serviço de Transplantação de Medula Óssea, Instituto Português de Oncologia, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s10875-018-0576-xDOI Listing
January 2019

Introduction: Continuing insights into the healthy and diseased immune system through human genetic investigation.

Immunol Rev 2019 01;287(1):5-8

Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1111/imr.12730DOI Listing
January 2019

West Nile virus encephalitis in GATA2 deficiency.

Allergy Asthma Clin Immunol 2019 24;15. Epub 2019 Jan 24.

1Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Stanford University School of Medicine, 269 Campus Drive, CCSR 3215, MC 5366, Stanford, CA 94305 USA.

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http://dx.doi.org/10.1186/s13223-019-0321-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346581PMC
January 2019

GM-CSF therapy in human caspase recruitment domain-containing protein 9 deficiency.

J Allergy Clin Immunol 2018 10 8;142(4):1334-1338.e5. Epub 2018 Jun 8.

Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy & Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183084
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http://dx.doi.org/10.1016/j.jaci.2018.05.025DOI Listing
October 2018

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

J Allergy Clin Immunol 2018 09 24;142(3):993-997.e3. Epub 2018 May 24.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.05.009DOI Listing
September 2018

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.

J Clin Immunol 2018 08 23;38(6):712-716. Epub 2018 Jul 23.

Functional Unit of Clinical Immunology and Primary Immunodeficiencies, Hospital Sant Joan de Déu, University of Barcelona, Pediatric Research Institute Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10875-018-0535-6DOI Listing
August 2018

Germline GATA2 Mutation and Bone Marrow Failure.

Hematol Oncol Clin North Am 2018 Aug 28;32(4):713-728. Epub 2018 May 28.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.hoc.2018.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128284PMC
August 2018

Oocyte cryopreservation for women with GATA2 deficiency.

J Assist Reprod Genet 2018 Jul 13;35(7):1201-1207. Epub 2018 Mar 13.

Pelex, 931 Douglass Drive, McLean, VA, 22101, USA.

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http://dx.doi.org/10.1007/s10815-018-1146-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063823PMC
July 2018

IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.

Clin Infect Dis 2018 07;67(3):456-459

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1093/cid/ciy186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051446PMC
July 2018

Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.

J Allergy Clin Immunol 2018 05 30;141(5):1844-1853.e2. Epub 2017 Aug 30.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.

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http://dx.doi.org/10.1016/j.jaci.2017.07.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832513PMC
May 2018

Melanoma in patients with GATA2 deficiency.

Pigment Cell Melanoma Res 2018 03 10;31(2):337-340. Epub 2017 Dec 10.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/pcmr.12671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809272PMC
March 2018

Whole-Exome Sequencing Identifies the 6q12-q16 Linkage Region and a Candidate Gene, TTK, for Pulmonary Nontuberculous Mycobacterial Disease.

Am J Respir Crit Care Med 2017 12;196(12):1599-1604

1 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.

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http://dx.doi.org/10.1164/rccm.201612-2479OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754439PMC
December 2017

Transition From Pediatric to Adult Care by Young Adults With Chronic Granulomatous Disease: The Patient's Viewpoint.

J Adolesc Health 2017 Dec 22;61(6):716-721. Epub 2017 Sep 22.

Intramural Clinical Management and Operations Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jadohealth.2017.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701857PMC
December 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

Renal Fanconi syndrome with meropenem/amoxicillin-clavulanate during treatment of extensively drug-resistant tuberculosis.

Eur Respir J 2017 12 28;50(6). Epub 2017 Dec 28.

Division of Intramural Research, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD, USA

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http://dx.doi.org/10.1183/13993003.02023-2017DOI Listing
December 2017

Autoantibodies to Granulocyte-Macrophage Colony-Stimulating Factor Associated With Severe and Unusual Manifestations of Infections.

Open Forum Infect Dis 2017 5;4(4):ofx211. Epub 2017 Oct 5.

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

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http://dx.doi.org/10.1093/ofid/ofx211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695620PMC
October 2017

PD-L1 up-regulation restrains Th17 cell differentiation in loss- and gain-of-function patients.

J Exp Med 2017 Sep 14;214(9):2523-2533. Epub 2017 Jul 14.

Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD

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http://www.jem.org/lookup/doi/10.1084/jem.20161427
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http://dx.doi.org/10.1084/jem.20161427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584116PMC
September 2017

Case 28-2017. A 13-Month-Old Girl with Pneumonia and a 33-Year-Old Woman with Hip Pain.

N Engl J Med 2017 09;377(11):1077-1091

From the National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD (S.M.H.); and the Departments of Pediatrics (V.M.P.), Pathology (V.M.P., K.G.), Radiology (R.S.), and Medicine (J.R.F.), Massachusetts General Hospital, and the Departments of Pathology (V.M.P., K.G.), Radiology (R.S.), and Medicine (J.R.F.), Harvard Medical School - both in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1706097DOI Listing
September 2017

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

Allogeneic Reduced-Intensity Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: a Single-Center Prospective Trial.

J Clin Immunol 2017 Aug 28;37(6):548-558. Epub 2017 Jul 28.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.

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http://dx.doi.org/10.1007/s10875-017-0422-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317339PMC
August 2017

Primary Immunodeficiency Diseases: Current and Emerging Therapeutics.

Front Immunol 2017 9;8:937. Epub 2017 Aug 9.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2017.00937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552668PMC
August 2017

Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes.

Front Immunol 2017 14;8:820. Epub 2017 Jul 14.

Laboratory of Clinical Infectious Diseases, 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.2017.00820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509791PMC
July 2017

Faunal response to sea-level and climate change in a short-lived seaway: Jurassic of the Western Interior, USA.

Palaeontology 2017 03 8;60(2):213-232. Epub 2017 Feb 8.

Department of GeologyUniversity of Georgia210 Field StreetAthensGA30602-2501USA.

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http://dx.doi.org/10.1111/pala.12278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518760PMC
March 2017