Publications by authors named "Luigi D Notarangelo"

100Publications

Targeted pharmacologic immunomodulation for inborn errors of immunity.

Br J Clin Pharmacol 2020 Aug 1. Epub 2020 Aug 1.

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

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http://dx.doi.org/10.1111/bcp.14509DOI Listing
August 2020

Human inborn errors of immunity: An expanding universe.

Sci Immunol 2020 07;5(49)

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

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http://dx.doi.org/10.1126/sciimmunol.abb1662DOI Listing
July 2020

Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency.

J Allergy Clin Immunol 2020 May 6. Epub 2020 May 6.

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

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http://dx.doi.org/10.1016/j.jaci.2020.04.033DOI Listing
May 2020

Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.

Blood 2020 02;135(9):610-619

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.2019000923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046604PMC
February 2020

The immunologic features of patients with early-onset and polyautoimmunity.

Clin Immunol 2020 02 12;211:108326. Epub 2019 Dec 12.

Division of Immunology, Boston Children's Hospital, 1 Blackfan Circle, 10th Floor Karp Family Research Building, Boston, MA 02115, United States. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2019.108326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050734PMC
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

Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD.

J Clin Immunol 2020 01 13;40(1):236-239. Epub 2019 Nov 13.

Division of Allergy and Immunology, St. Joseph's University Medical Center, Paterson, NJ, USA.

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http://dx.doi.org/10.1007/s10875-019-00715-3DOI Listing
January 2020

Lack of specific T- and B-cell clonal expansions in multiple sclerosis patients with progressive multifocal leukoencephalopathy.

Sci Rep 2019 11 12;9(1):16605. Epub 2019 Nov 12.

Centro di Ricerca Emato-oncologica AIL (CREA), Diagnostic Department, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1038/s41598-019-53010-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851145PMC
November 2019

Generation of human induced pluripotent stem cell lines from patients with selective IgA deficiency.

Stem Cell Res 2019 12 22;41:101613. Epub 2019 Oct 22.

Department of Biosciences and Nutrition - NEO, Karolinska Institutet, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101613DOI Listing
December 2019

IgG Fc glycosylation as an axis of humoral immunity in childhood.

J Allergy Clin Immunol 2020 02 24;145(2):710-713.e9. Epub 2019 Oct 24.

Division of Immunology, Boston Children's Hospital, Boston, Mass; Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010538PMC
February 2020

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

J Allergy Clin Immunol 2019 11 13;144(5):1364-1376. Epub 2019 Jun 13.

Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Rare Diseases Center and Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.06.003DOI Listing
November 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 combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

J Allergy Clin Immunol 2019 06 13;143(6):2296-2299. Epub 2019 Feb 13.

Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677392PMC
June 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

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Front Immunol 2018 15;9:3146. Epub 2019 Jan 15.

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2018.03146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340972PMC
October 2019

RAG gene defects at the verge of immunodeficiency and immune dysregulation.

Immunol Rev 2019 01;287(1):73-90

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

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http://dx.doi.org/10.1111/imr.12713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309314PMC
January 2019

Hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Who, when, and how?

J Allergy Clin Immunol 2019 01 12;143(1):91-93. Epub 2018 Sep 12.

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

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http://dx.doi.org/10.1016/j.jaci.2018.08.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643100PMC
January 2019

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

J Allergy Clin Immunol 2019 03 5;143(3):852-863. Epub 2018 Sep 5.

Division of Immunology and Allergy, and the Department of Pediatrics, Developmental and Stem Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.08.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688493PMC
March 2019

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

HPV: CIB1 is for EVER and EVER.

J Exp Med 2018 09 1;215(9):2229-2231. Epub 2018 Aug 1.

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/10.1084/jem.20181207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122965PMC
September 2018

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

Clin Immunol 2018 10 25;195:59-66. Epub 2018 Jul 25.

Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6666391PMC
October 2018

RAG Deficiency: Two Genes, Many Diseases.

J Clin Immunol 2018 08 25;38(6):646-655. Epub 2018 Jul 25.

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

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http://dx.doi.org/10.1007/s10875-018-0537-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643099PMC
August 2018

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

J Allergy Clin Immunol 2018 10 21;142(4):1363-1365.e8. Epub 2018 Jun 21.

Division of Immunology, Boston Children's Hospital, Boston, Mass; Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, Mass.

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http://dx.doi.org/10.1016/j.jaci.2018.05.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175612PMC
October 2018

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

J Allergy Clin Immunol 2019 02 18;143(2):726-735. Epub 2018 Jun 18.

Pediatric Department A and the Immunology Service, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, Ramat-Gan and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295349PMC
February 2019

Future of Care for Patients With Chronic Granulomatous Disease: Gene Therapy and Targeted Molecular Medicine.

J Pediatric Infect Dis Soc 2018 May;7(suppl_1):S40-S44

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

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http://dx.doi.org/10.1093/jpids/piy011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985732PMC
May 2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell 2018 02;172(5):952-965.e18

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

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http://dx.doi.org/10.1016/j.cell.2018.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886375PMC
February 2018

Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation.

J Allergy Clin Immunol 2018 10 6;142(4):1272-1284. Epub 2018 Feb 6.

San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183020
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http://dx.doi.org/10.1016/j.jaci.2017.12.1000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078823PMC
October 2018

Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT.

Blood Adv 2017 Oct 23;1(23):2083-2087. Epub 2017 Oct 23.

Division of Blood and Marrow Transplant, Department of Pediatrics, University of Minnesota, Minneapolis, MN.

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http://dx.doi.org/10.1182/bloodadvances.2017010926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728290PMC
October 2017

Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.

J Allergy Clin Immunol 2018 09 11;142(3):928-941.e8. Epub 2017 Dec 11.

San Raffaele Telethon Institute for Gene Therapy (TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081264PMC
September 2018

Architecture of the human PI4KIIIα lipid kinase complex.

Proc Natl Acad Sci U S A 2017 12 11;114(52):13720-13725. Epub 2017 Dec 11.

Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520;

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http://dx.doi.org/10.1073/pnas.1718471115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5748228PMC
December 2017

Editorial: NK Cell Subsets in Health and Disease: New Developments.

Front Immunol 2017 18;8:1363. Epub 2017 Oct 18.

Centre d'Immunologie de Marseille-Luminy, Aix Marseille Université, INSERM, CNRS, Marseille, France.

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http://dx.doi.org/10.3389/fimmu.2017.01363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651263PMC
October 2017

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.

Clin Immunol 2018 02 16;187:68-75. Epub 2017 Oct 16.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.clim.2017.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826831PMC
February 2018

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 10;8:1244. Epub 2017 Oct 10.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.01
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http://dx.doi.org/10.3389/fimmu.2017.01244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641412PMC
October 2017

Abnormalities of T-cell receptor repertoire in CD4 regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity.

J Allergy Clin Immunol 2017 12 31;140(6):1739-1743.e7. Epub 2017 Aug 31.

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

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http://dx.doi.org/10.1016/j.jaci.2017.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911433PMC
December 2017

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 17;8:798. Epub 2017 Jul 17.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.00
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http://dx.doi.org/10.3389/fimmu.2017.00798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511964PMC
July 2017

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

J Clin Immunol 2017 08 19;37(6):508-510. Epub 2017 Jun 19.

Immune Deficiency Genetics Section, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5-3950, 10 Center Drive, MSC 1456, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10875-017-0408-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104642PMC
August 2017

Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

J Hum Genet 2017 Aug 27;62(8):737-738. Epub 2017 Apr 27.

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

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http://dx.doi.org/10.1038/jhg.2017.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537410PMC
August 2017

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

J Clin Immunol 2017 05 4;37(4):336-338. Epub 2017 Apr 4.

Immune Deficiency Genetics Section, Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5-3950, 10 Center Drive, MSC 1456, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10875-017-0391-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082367PMC
May 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

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.

J Allergy Clin Immunol 2017 08 9;140(2):612-614.e5. Epub 2017 Mar 9.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547008PMC
August 2017

Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.

J Allergy Clin Immunol 2017 Mar;139(3):715-723

Immunology Service, 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.2017.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5369241PMC
March 2017

Advances in clinical immunology in 2015.

J Allergy Clin Immunol 2016 12;138(6):1531-1540

Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Tex.

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http://dx.doi.org/10.1016/j.jaci.2016.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157931PMC
December 2016