Evidence map›Paper›PMID 35838483›Full record

ArticleAutophagy2023

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

Guowu Hu, Pia J Hauk, Nannan Zhang, Waleed Elsegeiny, Carlos M Guardia, Amy Kullas, Kevin Crosby, Robin R Deterding, Michaela Schedel, Paul Reynolds and 9 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Autophagy, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.6field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. An update on autophagy disorders.Journal of inherited metabolic disease · 2025
    Review
  3. Liver-specific loss ofAutophagy reports · 2025
    Article
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 7 institutions in 2 countries.

Guowu HuLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Pia J HaukDivisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
Nannan ZhangLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Waleed ElsegeinyLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Carlos M GuardiaSection 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 KullasLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Kevin CrosbyLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Robin R DeterdingSection Pediatric Pulmonary Medicine, Children's Hospital, Colorado, Aurora, CO, USA.
Michaela SchedelDivisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
Paul ReynoldsDivisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
Jordan K AbbottDivisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
Vijaya KnightSection Pediatric Allergy and Immunology, Children's Hospital, Colorado, Aurora, CO, USA.
Stefania PittalugaLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Mark RaffeldImmunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA.
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA.
Juan S BonifacinoSection 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 UzelLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Peter R WilliamsonLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Erwin W GelfandDivisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA.
National Institute of Allergy and Infectious Diseases · USNational Institutes of Health · USUniversity of Colorado Denver · USNational Institutes of Health Clinical Center · USChildren's Hospital Colorado · USEssen University Hospital · DENational Jewish Health · US

Funding

Protein Trafficking In The Endosomal-Lysosomal SystemZIAHD001607 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI BONIFACINO, JUAN · 2009 to 2025
$48.3M
Molecular Pathobiology of Cryptococcus neoformansZIAAI001123 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI WILLIAMSON, PETER · 2010 to 2025
$10.4M
Naturally Occurring T Regulatory Cells Control Airway HyperresponsivenessR01AI077609 · NIAID · NATIONAL JEWISH HEALTH · PI GELFAND, ERWIN WILLIAM · 2009 to 2013
$2.3M
Naturally occurring T regulatory cells control airway hyperresponsivenessR56AI077609 · NIAID · NATIONAL JEWISH HEALTH · PI GELFAND, ERWIN WILLIAM · 2008 to 2008
$487k
Intramural NIH HHS ZIA HD001607NIAID NIH HHS R01 AI077609NIAID NIH HHS R56 AI077609
6 · The paper itself

Abstract

abbreviationsBCL2: 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.

Indexed as

Epstein-Barr Virus InfectionsAutophagyAutophagy-Related ProteinsHerpesvirus 4, HumanHumansHyperplasiaLeukocytes, MononuclearMembrane ProteinsMutationNF-kappa BProto-Oncogene Proteins c-bcl-2Vesicular Transport ProteinsATG9A protein, humanAutophagy-Related ProteinsMembrane ProteinsNF-kappa BProto-Oncogene Proteins c-bcl-2Vesicular Transport ProteinsATG9Acellular proliferationMTORNFKBrapamycinT-cell signaling

Identifiers

PMID35838483
PMCPMC9851204
OpenAlexW4285490550

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.