Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A .

Autor: Hu G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Hauk PJ; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.; Section Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA., Zhang N; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Elsegeiny W; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Guardia CM; 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., Kullas A; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Crosby K; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Deterding RR; Section Pediatric Pulmonary Medicine, Children's Hospital, Colorado, Aurora, CO, USA., Schedel M; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.; Department of Pulmonary Medicine, University Medicine Essen-Ruhrlandklinik, Essen, Germany.; Department of Pulmonary Medicine, University Medicine Essen, University Hospital, Essen, Germany., Reynolds P; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, 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.; Section Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA., Knight V; Section Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA., Pittaluga S; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Raffeld M; Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA., Bonifacino JS; 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., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Williamson PR; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Gelfand EW; Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
Jazyk: angličtina
Zdroj: Autophagy [Autophagy] 2023 Feb; Vol. 19 (2), pp. 678-691. Date of Electronic Publication: 2022 Jul 15.
DOI: 10.1080/15548627.2022.2093028
Abstrakt: 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.
Databáze: MEDLINE