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Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A.
Hu, Guowu; Hauk, Pia J; Zhang, Nannan; Elsegeiny, Waleed; Guardia, Carlos M; Kullas, Amy; Crosby, Kevin; Deterding, Robin R; Schedel, Michaela; Reynolds, Paul; Abbott, Jordan K; Knight, Vijaya; Pittaluga, Stefania; Raffeld, Mark; Rosenzweig, Sergio D; Bonifacino, Juan S; Uzel, Gulbu; Williamson, Peter R; Gelfand, Erwin W.
Afiliação
  • Hu G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Hauk PJ; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Zhang N; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
  • Elsegeiny W; Section Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA.
  • Guardia CM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Kullas A; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Crosby K; Section on Intracellular Protein Trafficking, Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Deterding RR; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Schedel M; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Reynolds P; Section Pediatric Pulmonary Medicine, Children's Hospital, Colorado, Aurora, CO, USA.
  • Abbott JK; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
  • Knight V; Department of Pulmonary Medicine, University Medicine Essen-Ruhrlandklinik, Essen, Germany.
  • Pittaluga S; Department of Pulmonary Medicine, University Medicine Essen, University Hospital, Essen, Germany.
  • Raffeld M; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
  • Rosenzweig SD; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
  • Bonifacino JS; Section Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA.
  • Uzel G; Section Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA.
  • Williamson PR; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Gelfand EW; Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA.
Autophagy ; 19(2): 678-691, 2023 02.
Article em En | MEDLINE | ID: mdl-35838483
ABBREVIATIONS: BCL2: BCL2 apoptosis regulator; BCL10: BCL10 immune signaling adaptor; CARD11: caspase recruitment domain family member 11; CBM: CARD11-BCL10-MALT1; CR2: complement C3d receptor 2; EBNA: Epstein Barr nuclear antigen; EBV: Epstein-Barr virus; FCGR3A; Fc gamma receptor IIIa; GLILD: granulomatous-lymphocytic interstitial lung disease; HV: healthy volunteer; IKBKB/IKB kinase: inhibitor of nuclear factor kappa B kinase subunit beta; IL2RA: interleukin 2 receptor subunit alpha; MALT1: MALT1 paracaspase; MS4A1: membrane spanning 4-domain A1; MTOR: mechanistic target of rapamycin kinase; MYC: MYC proto-oncogene, bHLH: transcription factor; NCAM1: neural cell adhesion molecule 1; NFKB: nuclear factor kappa B; NIAID: National Institute of Allergy and Infectious Diseases; NK: natural killer; PTPRC: protein tyrosine phosphatase receptor type C; SELL: selectin L; PBMCs: peripheral blood mononuclear cells; TR: T cell receptor; Tregs: regulatory T cells; WT: wild-type.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Infecções por Vírus Epstein-Barr Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Infecções por Vírus Epstein-Barr Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article