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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Aluri, Jahnavi; Bach, Alicia; Kaviany, Saara; Chiquetto Paracatu, Luana; Kitcharoensakkul, Maleewan; Walkiewicz, Magdalena A; Putnam, Christopher D; Shinawi, Marwan; Saucier, Nermina; Rizzi, Elise M; Harmon, Michael T; Keppel, Molly P; Ritter, Michelle; Similuk, Morgan; Kulm, Elaine; Joyce, Michael; de Jesus, Adriana A; Goldbach-Mansky, Raphaela; Lee, Yi-Shan; Cella, Marina; Kendall, Peggy L; Dinauer, Mary C; Bednarski, Jeffrey J; Bemrich-Stolz, Christina; Canna, Scott W; Abraham, Shirley M; Demczko, Matthew M; Powell, Jonathan; Jones, Stacie M; Scurlock, Amy M; De Ravin, Suk See; Bleesing, Jack J; Connelly, James A; Rao, V Koneti; Schuettpelz, Laura G; Cooper, Megan A.
Afiliação
  • Aluri J; Division of Rheumatology/Immunology and.
  • Bach A; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Kaviany S; Pediatric Hematology Oncology, Vanderbilt University Medical Center, Nashville, TN.
  • Chiquetto Paracatu L; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Kitcharoensakkul M; Division of Rheumatology/Immunology and.
  • Walkiewicz MA; Division of Allergy and Pulmonary Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Putnam CD; Centralized Sequencing Initiative, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Shinawi M; Department of Medicine, University of California School of Medicine, San Diego, La Jolla, CA.
  • Saucier N; San Diego Branch, Ludwig Institute for Cancer Research, La Jolla, CA.
  • Rizzi EM; Division of Genetics and Genomic Medicine, Department of Pediatrics and.
  • Harmon MT; Division of Rheumatology/Immunology and.
  • Keppel MP; Division of Allergy and Immunology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
  • Ritter M; Division of Rheumatology/Immunology and.
  • Similuk M; Division of Rheumatology/Immunology and.
  • Kulm E; Division of Rheumatology/Immunology and.
  • Joyce M; Centralized Sequencing Initiative, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • de Jesus AA; Clinical Research Directorate, Frederick National Laboratory for Cancer Research sponsored by the National Cancer Institute, Frederick, MD.
  • Goldbach-Mansky R; Nemours Children's Specialty Care, Jacksonville, FL.
  • Lee YS; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Cella M; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Kendall PL; Division of Anatomic and Molecular Pathology and.
  • Dinauer MC; Division of Immunology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
  • Bednarski JJ; Division of Allergy and Immunology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
  • Bemrich-Stolz C; Division of Immunology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
  • Canna SW; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Abraham SM; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Demczko MM; Division of Hematology and Oncology, Department of Pediatrics, University of Alabama School of Medicine, Birmingham, AL.
  • Powell J; Division of Pediatric Rheumatology and RK Mellon Institute, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, PA.
  • Jones SM; Division of Hematology and Oncology, Department of Pediatrics, University of New Mexico, Albuquerque, NM.
  • Scurlock AM; Division of Diagnostic Referral and.
  • De Ravin SS; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Nemours Alfred I. DuPont Hospital for Children, Wilmington, DE.
  • Bleesing JJ; Division of Allergy and Immunology, Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.
  • Connelly JA; Division of Allergy and Immunology, Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.
  • Rao VK; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD; and.
  • Schuettpelz LG; Division of Bone Marrow Transplantation and Immunodeficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Cooper MA; Pediatric Hematology Oncology, Vanderbilt University Medical Center, Nashville, TN.
Blood ; 137(18): 2450-2462, 2021 05 06.
Article em En | MEDLINE | ID: mdl-33512449
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pancitopenia / Receptor 8 Toll-Like / Mutação com Ganho de Função / Transtornos da Insuficiência da Medula Óssea / Síndromes de Imunodeficiência / Inflamação / Mosaicismo Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pancitopenia / Receptor 8 Toll-Like / Mutação com Ganho de Função / Transtornos da Insuficiência da Medula Óssea / Síndromes de Imunodeficiência / Inflamação / Mosaicismo Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article