Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2020

Huang Y Y, He T Y, Xia Y, Luo Y, Weng R H, Luo S L, Yang J, Zhao X D

Abstract excerpt

Objective: To explore the clinical phenotype, immunological features, pathogenesis and gene variation of a case with A20 haploinsufficiency (HA20). Methods: A patient diagnosed with tumor necrosis factor α-induced protein 3 (TNFAIP3) mutated HA20 was admitted into Shenzhen Children's Hospital in May,2019.The clinical data was analyzed. Flow cytometry was used to detect the patient's peripheral blood lymphocyte...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmune Diseases
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to HeLa Cells

Share to Heterozygote

Share to NF-kappa B

Share to Phenotype

Share to Tumor Necrosis Factor alpha-Induced Protein 3

Source

Identifiers

PMID: 32135594
DOI: 10.3760/cma.j.issn.0578-1310.2020.03.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency].PMID 32135594Read ↗

Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.Semantic proximity Read ↗

[A report of clinical characteristics of 2 Chinese pedigrees with haploinsufficiency of A20 and literature review].Semantic proximity Read ↗

Haploinsufficiency of A20 caused by heterozygous mutations in the TNFAIP3 gene:A Case SeriesSemantic proximity Read ↗

Clinical characteristics and genetic analysis of A20 haploinsufficiency.Semantic proximity Read ↗

Clinical characteristics and genetic analysis of 3 A20 Haploinsufficiency patientsSemantic proximity Read ↗

Haploinsufficiency of A20 caused by a novel pathogenic missense variant of TNFAIP3 and successfully treated with anti-TNF and immunosuppressive therapiesSemantic proximity Read ↗

Five children with haploinsufficiency of A20 caused by heterozygous mutations in the TNFAIP3 gene.Semantic proximity Read ↗

A case haploinsuffificiency of A20 was initial diagnosed as systemic lupus erythematosusSemantic proximity Read ↗

[A case of haploinsufficiency of A20 caused by new variation of TNFAIP3 gene].Semantic proximity Read ↗

Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolutionSemantic proximity Read ↗

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.Semantic proximity Read ↗

[A20 haploinsufficiency: what do clinicians need to know?]Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.