Article

A case haploinsuffificiency of A20 was initial diagnosed as systemic lupus erythematosus

2024-02-16

Abstract excerpt

<title>Abstract</title> <p>Background Haploinsuffificiency of A20 (HA20) is one of inborn errors of immunity causing severe autoinflammatory and autoimmune disorders. Case presentation: Here we reported a case of a 1-year-and-9-month-old boy presented for treatment with pain, swelling and limited mobility in his right ankle. Multiple positive autoantibodies were examined with a history of recurrent oral ulcers...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 647e9440-66a4-504a-b9d3-8d8ecb41a30f
DOI: 10.21203/rs.3.rs-3949629/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A case haploinsuffificiency of A20 was initial diagnosed as systemic lupus erythematosusDOI 10.21203/rs.3.rs-3949629/v1Read

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 heterozygous mutations in the TNFAIP3 gene:A Case SeriesSemantic proximity Read

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

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

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

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

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

[A woman in her thirties with frequent mucosal ulcers].Semantic proximity Read

Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20.Semantic proximity Read

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.Semantic proximity Read