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

Humans Autophagy Autophagy-Related Proteins / genetics Epstein-Barr Virus Infections Herpesvirus 4, Human Hyperplasia Leukocytes, Mononuclear / metabolism Membrane Proteins / genetics Mutation NF-kappa B / metabolism Proto-Oncogene Proteins c-bcl-2 / genetics Vesicular Transport Proteins / genetics
ATG9A MTOR NFKB T-cell signaling cellular proliferation rapamycin

Journal

Autophagy
ISSN: 1554-8635
Titre abrégé: Autophagy
Pays: United States
ID NLM: 101265188

Informations de publication

Date de publication:
02 2023
Historique:
pubmed: 16 7 2022
medline: 20 1 2023
entrez: 15 7 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1080/15548627.2022.2093028 PMID: 35838483 PMC: PMC9851204
pubmed: 35838483
doi: 10.1080/15548627.2022.2093028
pmc: PMC9851204
doi:

Substances chimiques

ATG9A protein, human 0
Autophagy-Related Proteins 0
Membrane Proteins 0
NF-kappa B 0
Proto-Oncogene Proteins c-bcl-2 0
Vesicular Transport Proteins 0

Types de publication

Case Reports Journal Article Research Support, N.I.H., Intramural Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

678-691

Subventions

Organisme : NIAID NIH HHS
ID : R01 AI077609
Pays : United States
Organisme : NIAID NIH HHS
ID : R56 AI077609
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HD001607
Pays : United States

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Auteurs

Guowu 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.

Pia J 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.

Nannan Zhang (N)

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

Waleed Elsegeiny (W)

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

Carlos M 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.

Amy Kullas (A)

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

Kevin Crosby (K)

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

Robin R Deterding (RR)

Section Pediatric Pulmonary Medicine, Children's Hospital, Colorado, Aurora, CO, USA.

Michaela 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.

Paul 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.

Jordan K 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.

Vijaya Knight (V)

Section Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA.

Stefania Pittaluga (S)

Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Mark Raffeld (M)

Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA.

Sergio D Rosenzweig (SD)

Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA.

Juan S 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.

Gulbu Uzel (G)

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

Peter R Williamson (PR)

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

Erwin W 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.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Autophagie › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines associées à l'autophagie › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Infection › Maladies virales › Infections à virus oncogènes › Infections à virus Epstein-Barr › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Virus › Virus oncogènes › Virus tumoraux à ADN › Gammaherpesvirinae › Lymphocryptovirus › Herpèsvirus humain de type 4 › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Hyperplasie › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription NF-kappa B › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Protéines proto-oncogènes c-bcl-2 › Autophagy-associated immune dysregulation and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › Autophagy-associated immune dysregulation and...