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Article

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

Autophagy - 1 Feb 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 35838483
DOI: 10.1080/15548627.2022.2093028
PMCID: PMC9851204

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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