Kathleen E Sullivan

Kathleen E Sullivan

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Kathleen E Sullivan

Kathleen E Sullivan

Publications by authors named "Kathleen E Sullivan"

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T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

J Allergy Clin Immunol Pract 2018 Mar - Apr;6(2):690-691. Epub 2017 Sep 28.

Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, the Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaip.2017.08.028DOI Listing
November 2019

The Unique Disease Course of Children with Very Early onset-Inflammatory Bowel Disease.

Inflamm Bowel Dis 2019 Sep 27. Epub 2019 Sep 27.

Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania.

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http://dx.doi.org/10.1093/ibd/izz214DOI Listing
September 2019

Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.

J Allergy Clin Immunol 2019 Sep 27. Epub 2019 Sep 27.

Departments of Pediatrics and Medicine, University of South Florida, St Petersburg, Fla; Division of Pediatric Allergy/Immunology, Johns Hopkins-All Children's Hospital, St Petersburg, Fla; Division of Pediatric Allergy Immunology, Massachusetts General Hospital, Boston, Mass.

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http://dx.doi.org/10.1016/j.jaci.2019.09.009DOI Listing
September 2019

Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.

J Allergy Clin Immunol 2019 Aug 22. Epub 2019 Aug 22.

Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa; Institute for Immunology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.08.007DOI Listing
August 2019

Toll-like receptor 2 stimulation augments esophageal barrier integrity.

Allergy 2019 Jul 2. Epub 2019 Jul 2.

Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/all.13968DOI Listing
July 2019

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

J Allergy Clin Immunol 2019 Jun 17;143(6):2238-2253. Epub 2019 Jan 17.

Department of Pediatric Immunology and HSCT, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193003
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http://dx.doi.org/10.1016/j.jaci.2018.12.1010DOI Listing
June 2019

Prolactin activates IRF1 and leads to altered balance of histone acetylation: Implications for systemic lupus erythematosus.

Mod Rheumatol 2019 Jun 7:1-12. Epub 2019 Jun 7.

b Division of Allergy Immunology , The Children's Hospital of Philadelphia , Philadelphia , PA , USA.

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http://dx.doi.org/10.1080/14397595.2019.1620999DOI Listing
June 2019

Overall Downregulation of mRNAs and Enrichment of H3K4me3 Change Near Genome-Wide Association Study Signals in Systemic Lupus Erythematosus: Cell-Specific Effects.

Front Immunol 2018 13;9:497. Epub 2018 Mar 13.

The Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.

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http://dx.doi.org/10.3389/fimmu.2018.00497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5859352PMC
April 2019

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 04 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616346PMC
April 2019

Immune Biomarkers of Autoimmunity in Chromosome 22q11.2 Deletion Syndrome.

J Allergy Clin Immunol Pract 2019 Sep - Oct;7(7):2377-2378

The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.04.051DOI Listing
April 2019

Allogeneic hematopoietic stem cell transplantation in adolescent patients with chronic granulomatous disease.

J Allergy Clin Immunol Pract 2019 Mar 2;7(3):1052-1054.e2. Epub 2018 Nov 2.

Division of Allergy & Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaip.2018.10.034DOI Listing
March 2019

Early-Onset Inflammatory Bowel Disease.

Immunol Allergy Clin North Am 2019 02;39(1):63-79

Division of Allergy Immunology, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.iac.2018.08.008DOI Listing
February 2019

Neutropenia as a sign of immunodeficiency.

J Allergy Clin Immunol 2019 01 9;143(1):96-100. Epub 2018 Oct 9.

Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183142
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http://dx.doi.org/10.1016/j.jaci.2018.09.018DOI Listing
January 2019

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.

Immunol Rev 2019 01;287(1):186-201

The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/imr.12701DOI Listing
January 2019

Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma.

J Clin Immunol 2019 01 24;39(1):112-117. Epub 2019 Jan 24.

Division of Allergy Immunology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s10875-019-0589-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383808PMC
January 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

J Allergy Clin Immunol 2018 12 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.02.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215742PMC
December 2018

Very early-onset inflammatory bowel disease: an integrated approach.

Curr Opin Allergy Clin Immunol 2018 12;18(6):459-469

The Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://Insights.ovid.com/crossref?an=00130832-201812000-0000
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http://dx.doi.org/10.1097/ACI.0000000000000484DOI Listing
December 2018

Enhancer RNA and NFκB-dependent P300 regulation of ADAMDEC1.

Mol Immunol 2018 11 20;103:312-321. Epub 2018 Oct 20.

The Division of Allergy Immunology at The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA, 19104, United states. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01615890183082
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http://dx.doi.org/10.1016/j.molimm.2018.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260809PMC
November 2018

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 17;176(10):2082-2086. Epub 2018 Jan 17.

The Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470357PMC
October 2018

Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency.

Semin Arthritis Rheum 2018 10 23;48(2):318-326. Epub 2018 Feb 23.

Divisions of Rheumatology and Allergy and Clinical Immunology, Johns Hopkins University School of Medicine, Baltimore, MD.

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http://dx.doi.org/10.1016/j.semarthrit.2018.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107427PMC
October 2018

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Blood 2018 10 28;132(17):1737-1749. Epub 2018 Aug 28.

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/blood-2018-03-840702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202916PMC
October 2018

EMSY is increased and activates TSLP & CCL5 expression in eosinophilic esophagitis.

Pediatr Allergy Immunol 2018 08 29;29(5):565-568. Epub 2018 May 29.

Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/pai.12907DOI Listing
August 2018

Pathogenesis of Pediatric Rheumatologic Diseases.

Pediatr Clin North Am 2018 08;65(4):639-655

Department of Pediatrics, Division of Allergy Immunology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2018.03.004DOI Listing
August 2018

Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry.

J Clin Immunol 2018 08 24;38(6):717-726. Epub 2018 Jul 24.

National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, 1600 Clifton Rd NE, MS A-34, Atlanta, GA, 30333, USA.

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http://dx.doi.org/10.1007/s10875-018-0534-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155465PMC
August 2018

Renal Disease in Chronic Granulomatous Disease: Data from the USIDNET Registry.

J Clin Immunol 2018 07 5;38(5):556-557. Epub 2018 Jul 5.

Department of Allergy and Immunology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1007/s10875-018-0530-yDOI Listing
July 2018

Low Rates of Poliovirus Antibodies in Primary Immunodeficiency Patients on Regular Intravenous Immunoglobulin Treatment.

J Clin Immunol 2018 07 14;38(5):628-634. Epub 2018 Jul 14.

Division of Pediatric Infectious Diseases, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s10875-018-0531-xDOI Listing
July 2018

Corrigendum to "Rapid induction of expression by LPS is accompanied by favorable chromatin and rapid binding of c-Jun" [Mol. Immunol. 95 (2018) 99-106].

Mol Immunol 2018 05 3;97:117. Epub 2018 Apr 3.

The Children's Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molimm.2018.03.021DOI Listing
May 2018

Complications Associated with Underweight Primary Immunodeficiency Patients: Prevalence and Associations Within the USIDNET Registry.

J Clin Immunol 2018 04 4;38(3):283-293. Epub 2018 Apr 4.

Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10875-018-0492-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422024PMC
April 2018

Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry.

J Allergy Clin Immunol 2018 03 9;141(3):1028-1035. Epub 2017 Jun 9.

Department of Immunology, Roswell Park Cancer Institute, Buffalo, NY; Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY; Department of Medicine, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723251PMC
March 2018

Rapid induction of expression by LPS is accompanied by favorable chromatin and rapid binding of c-Jun.

Mol Immunol 2018 03 20;95:99-106. Epub 2018 Feb 20.

The Children's Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molimm.2018.02.002DOI Listing
March 2018

Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.

Ann Allergy Asthma Immunol 2018 02 28;120(2):214-215. Epub 2017 Dec 28.

Phoenix Children's Hospital, Phoenix, Arizona; University of Arizona College of Medicine, Phoenix, Arizona; Mayo Clinic Arizona, Scottsdale, Arizona. Electronic address:

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http://dx.doi.org/10.1016/j.anai.2017.11.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803340PMC
February 2018

Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry.

J Clin Immunol 2018 01 28;38(1):28-34. Epub 2017 Oct 28.

Weill Cornell Medical College, 505 East 70th street, New York, NY, 10021, USA.

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http://dx.doi.org/10.1007/s10875-017-0456-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743637PMC
January 2018

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.

J Clin Immunol 2018 01 20;38(1):4-6. Epub 2017 Nov 20.

Immunodeficiency Unit, Inflammation Center and Center for Rare Diseases, Children's Hospital, Helsinki University and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10875-017-0463-xDOI Listing
January 2018

Prior to extension, Transcriptomes of fibroblast-like Synoviocytes from extended and Polyarticular juvenile idiopathic arthritis are indistinguishable.

Pediatr Rheumatol Online J 2018 Jan 8;16(1). Epub 2018 Jan 8.

Pediatric Rheumatology, Nemours/AI DuPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA.

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http://dx.doi.org/10.1186/s12969-017-0217-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759884PMC
January 2018

Genomic Circuitry Underlying Immunological Response to Pediatric Acute Respiratory Infection.

Cell Rep 2018 01;22(2):411-426

Institute for Immunology, University of Pennsylvania, Philadelphia, PA, USA; Department of Microbiology, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.12.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796675PMC
January 2018

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

Inflamm Bowel Dis 2017 12;23(12):2252-2255

*Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; †Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; ‡Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; §Department of Pediatrics, Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; ‖Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; ¶Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and **Department of Molecular Medicine, University of Rome Sapienza, Rome, Italy.

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http://dx.doi.org/10.1097/MIB.0000000000001280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685903PMC
December 2017

Monogenic lupus: it's all new!

Curr Opin Immunol 2017 Dec 27;49:87-95. Epub 2017 Oct 27.

The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Blvd., Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.coi.2017.10.008DOI Listing
December 2017

Inhibition of rubella virus replication by the broad-spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency.

Antiviral Res 2017 Nov 30;147:58-66. Epub 2017 Sep 30.

Division of Viral Diseases, Centers for Disease Control and Prevention, 1600 Clifton Rd NE, MS C22, Atlanta, GA 30333, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01663542173064
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http://dx.doi.org/10.1016/j.antiviral.2017.09.019DOI Listing
November 2017

Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy.

J Allergy Clin Immunol Pract 2016 Nov - Dec;4(6):1059-1065. Epub 2016 Feb 13.

Division of Allergy and Immunology, the Children's Hospital of Philadelphia, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2015.12.015DOI Listing
October 2017

The immune deficiency of chromosome 22q11.2 deletion syndrome.

Am J Med Genet A 2017 Sep 19;173(9):2366-2372. Epub 2017 Jun 19.

The Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Philadelphia.

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http://dx.doi.org/10.1002/ajmg.a.38319DOI Listing
September 2017

SERPINB2 is regulated by dynamic interactions with pause-release proteins and enhancer RNAs.

Mol Immunol 2017 08 1;88:20-31. Epub 2017 Jun 1.

The Division of Allergy Immunology at The Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molimm.2017.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535806PMC
August 2017

Inflammatory Bowel Disease in Primary Immunodeficiencies.

Curr Allergy Asthma Rep 2017 Aug;17(8):57

Allergy Immunology, The Children's Hospital of Philadelphia, ARC 1216-I, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s11882-017-0724-zDOI Listing
August 2017

Two Sides of the Same Coin: Pediatric-Onset and Adult-Onset Common Variable Immune Deficiency.

J Clin Immunol 2017 Aug 28;37(6):592-602. Epub 2017 Jul 28.

Division of Allergy and Immunology, Children's Hospital of Philadelphia, ARC 1216, 3615 Civic Center Blvd., Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s10875-017-0415-5DOI Listing
August 2017

C3 nephritic factors: A changing landscape.

J Allergy Clin Immunol 2017 07 16;140(1):57-59. Epub 2017 Mar 16.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaci.2017.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520103PMC
July 2017

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.

J Clin Immunol 2017 Jul 24;37(5):476-485. Epub 2017 May 24.

The 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10875-017-0403-9DOI Listing
July 2017

Recurrent and Sustained Viral Infections in Primary Immunodeficiencies.

Front Immunol 2017 19;8:665. Epub 2017 Jun 19.

The Children's Hospital of Philadelphia, Philadelphia, PA, United States.

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http://dx.doi.org/10.3389/fimmu.2017.00665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5474473PMC
June 2017

Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.

J Clin Immunol 2017 May 28;37(4):363-374. Epub 2017 Mar 28.

Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10875-017-0388-4DOI Listing
May 2017

Severe, persistent, and fatal T-cell immunodeficiency following therapy for infantile leukemia.

Pediatr Blood Cancer 2016 11 29;63(11):2046-9. Epub 2016 Jun 29.

Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada.

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http://dx.doi.org/10.1002/pbc.26108DOI Listing
November 2016

Successful unrelated cord blood transplant for complete IFN-γ receptor 2 deficiency.

J Allergy Clin Immunol 2016 11 14;138(5):1489-1491. Epub 2016 Jul 14.

Division of Allergy & Immunology, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.06.017DOI Listing
November 2016

Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies.

J Allergy Clin Immunol 2016 11 6;138(5):1436-1439.e11. Epub 2016 Sep 6.

Division of Allergy Immunology, the Children's Hospital of Philadelphia, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.06.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392721PMC
November 2016

New insights into the immunopathogenesis of systemic lupus erythematosus.

Nat Rev Rheumatol 2016 11;12(12):716-730

Division of Allergy and Immunology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/nrrheum.2016.186DOI Listing
November 2016

Monocyte enhancers are highly altered in systemic lupus erythematosus.

Epigenomics 2015 7;7(6):921-35. Epub 2015 Oct 7.

Division of Allergy & Immunology, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.2217/epi.15.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864065PMC
September 2016

Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.

Am J Med Genet A 2016 06 8;170(6):1630-4. Epub 2016 Apr 8.

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37648DOI Listing
June 2016

H3K4 tri-methylation breadth at transcription start sites impacts the transcriptome of systemic lupus erythematosus.

Clin Epigenetics 2016 2;8:14. Epub 2016 Feb 2.

Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104 USA.

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http://dx.doi.org/10.1186/s13148-016-0179-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736279PMC
April 2016

B cell development in chromosome 22q11.2 deletion syndrome.

Clin Immunol 2016 Feb 10;163:1-9. Epub 2015 Dec 10.

Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2015.12.004DOI Listing
February 2016

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

BMC Gastroenterol 2015 Dec 18;15:179. Epub 2015 Dec 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1186/s12876-015-0412-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683708PMC
December 2015

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Gastroenterology 2015 Nov 17;149(6):1415-24. Epub 2015 Jul 17.

Division of Human Genetics, The Children's Hospital of Philadelphia; Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1053/j.gastro.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853027PMC
November 2015

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

BMC Gastroenterol 2015 Nov 18;15:160. Epub 2015 Nov 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1186/s12876-015-0394-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652404PMC
November 2015

Interferon regulatory factor 1 and histone H4 acetylation in systemic lupus erythematosus.

Epigenetics 2015 ;10(3):191-9

a Division of Rheumatology ; University of Pennsylvania Perelman School of Medicine ; Philadelphia , PA USA.

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http://dx.doi.org/10.1080/15592294.2015.1009764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622916PMC
October 2015

Endotoxin tolerance in monocytes can be mitigated by α2-interferon.

J Leukoc Biol 2015 Oct 23;98(4):651-9. Epub 2015 Jul 23.

*Division of Allergy Immunology and The Center for Biomedical Informatics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA

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http://dx.doi.org/10.1189/jlb.4A0914-450RRDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763867PMC
October 2015

Antibodies to BK virus in children prior to allogeneic hematopoietic cell transplant.

Pediatr Blood Cancer 2015 Sep 1;62(9):1670-3. Epub 2015 Apr 1.

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

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http://dx.doi.org/10.1002/pbc.25536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515143PMC
September 2015

The Role of MicroRNAs and Human Epidermal Growth Factor Receptor 2 in Proliferative Lupus Nephritis.

Arthritis Rheumatol 2015 Sep;67(9):2415-26

The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia.

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http://dx.doi.org/10.1002/art.39219DOI Listing
September 2015

Health care utilization by patients with common variable immune deficiency defined by International Classification of Diseases, Ninth Revision code 279.06.

Ann Allergy Asthma Immunol 2015 Sep 7;115(3):248-50. Epub 2015 Jul 7.

Louisiana Public Health Institute, New Orleans, Louisiana.

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http://dx.doi.org/10.1016/j.anai.2015.06.012DOI Listing
September 2015

RNA Biosignatures in Adolescent Patients in a Pediatric Emergency Department With Pelvic Inflammatory Disease.

Pediatr Emerg Care 2015 Jul;31(7):465-72

From the *Division of Emergency Medicine, The Children's Hospital of Philadelphia; †Perelman School of Medicine, University of Pennsylvania; ‡Bioinformatics Core Facility, §Microarray Core Facility, The Children's Hospital of Philadelphia; ∥Division of Emergency Medicine, Children's National Medical Center; and ¶Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA.

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http://dx.doi.org/10.1097/PEC.0000000000000483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495580PMC
July 2015

Rare variants at 16p11.2 are associated with common variable immunodeficiency.

J Allergy Clin Immunol 2015 Jun 10;135(6):1569-77. Epub 2015 Feb 10.

Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, Pa; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, Perelman School of Medicine Philadelphia, University of Pennsylvania, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.12.1939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461447PMC
June 2015