Article

A rare case report: ICOS and WIPF1 mutation together in a patient

2022-03-15

Abstract excerpt

<title>Abstract</title> <p><italic>Background and Aims:</italic><bold> </bold>We report a girl with novel inducible co-stimulator (ICOS) and novel WIPF1 mutations. <italic>Methods:</italic><bold> </bold>A 12 year old female patient presented with bloody diarrhea, weight loss, swelling in both knees that started two weeks ago. In the history of the patient: she had convulsions, stayed in the hospital for 3 months...

Topics

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

Identifiers and source

Literature Corpus work: 6031c859-7653-5a61-a68a-750264606dca
DOI: 10.21203/rs.3.rs-1395601/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A rare case report: ICOS and WIPF1 mutation together in a patientDOI 10.21203/rs.3.rs-1395601/v1Read

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.Semantic proximity Read

Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.Semantic proximity Read

Early Onset Inflammatory Bowel Disease Due to Immunodeficiency as a Result of ICOS Gene Homozygous Mutation.Semantic proximity Read

Recurrent Oral Aphtha, Diarrhea, Pneumonia, And Respiratory Distress Since Infancy: STAT1 GOF defectSemantic proximity Read

Confirmed diagnosis of classic Wiskott-Aldrich syndrome in East Africa: a case report.Semantic proximity Read

[Clinical features and genotype analysis of 132 patients with Wiskott-Aldrich syndrome].Semantic proximity Read

Case report: Recurrent enteritis and intestinal obstruction in a patient with chronic mucocutaneous candidiasis due to STAT1 Gain-of-function mutationSemantic proximity Read

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RCSemantic proximity Read

Immunophenotype, Clinical Effect, and Comparison of TNFRSF13B/TACI Mutations A Single-Center Retrospective Cohort Study of 34 patients.Semantic proximity Read

Wiskott-Aldrich syndrome: Two case reports with a novel mutation.Semantic proximity Read

Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibilitySemantic proximity Read

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.Semantic proximity Read