biostudies-literatureHu GIntramural NIH HHSNIAID NIH HHS678-691https://www.ebi.ac.uk/biostudies/studies/S-EPMC9851204biostudies-literatureUnknown19(2)<h4>Abbreviations</h4>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.AutophagyAutophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in <i>ATG9A</i>.PMC9851204R01 AI077609ZIA HD001607R56 AI077609Bonifacino JSKullas AUzel GWilliamson PRHauk PJAbbott JKReynolds PZhang NGelfand EWRosenzweig SDKnight VDeterding RRRaffeld MCrosby KPittaluga SHu GGuardia CMSchedel MElsegeiny WfalseAutophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in <i>ATG9A</i>.<h4>Abbreviations</h4>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.2023-01-01T00:00:00Z2023 Feb2024-11-12T21:14:04.49Z2024-11-12T21:14:04.49ZS-EPMC98512043583848310.1080/15548627.2022.2093028