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

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.

Immunogenetics - 14 Nov 2024

Spivak Ilia, Lev Atar, Simon Amos J, Barel Ortal, Somekh Ido, Somech Raz

Abstract excerpt

Genetic variants in Folliculin interacting protein 1 (FNIP1) were recently discovered as monogenic causes for immunodeficiency and cardiomyopathy, with only a few patients diagnosed thus far. In this study, we describe a patient harboring a novel genetic variant in FNIP1 causing immunodeficiency with cardiac involvement. Clinical and immunological workups were performed. Genetic evaluation utilizing whole-exome...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Carrier Proteins
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Infant

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 39537849
DOI: 10.1007/s00251-024-01359-3
PMCID: PMC11561061

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.PMID 39537849Read ↗

An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases.Semantic proximity Read ↗

Discovery of single-gene inborn errors of immunity by next generation sequencing.Semantic proximity Read ↗

Identification and Functional Validation of Novel Pathogenic Variants in Primary Immunodeficiencies.Semantic proximity Read ↗

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.Semantic proximity Read ↗

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Semantic proximity Read ↗

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.Semantic proximity Read ↗

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.Semantic proximity Read ↗

Loss of function mutation in<i>ELF4</i>causes autoinflammatory and immunodeficiency disease in humanSemantic proximity Read ↗

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.Semantic proximity Read ↗

Novel frameshift variants expand the map of the genetic defects in IRF2BP2.Semantic proximity Read ↗

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.Semantic proximity Read ↗

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

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