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

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.

Frontiers in immunology - 1 Jan 2018

Bradshaw Gabrielle, Lualhati Robbie R, Albury Cassie L, Maksemous Neven, Roos-Araujo Deidre, Smith Robert A, Benton Miles C, Eccles David A, Lea Rod A, Sutherland Heidi G, Haupt Larisa M, Griffiths Lyn R

Abstract excerpt

Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Lymphopenia

Share to Microfilament Proteins

Share to Pedigree

Share to Sequence Deletion

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 29556235
DOI: 10.3389/fimmu.2018.00420
PMCID: PMC5845094

Genes

MSN

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.PMID 29556235Read ↗

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.Semantic proximity Read ↗

A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case ReportSemantic proximity Read ↗

Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingSemantic proximity Read ↗

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.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 ↗

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future PerspectivesSemantic proximity Read ↗

Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing.Semantic proximity Read ↗

Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation.Semantic proximity Read ↗

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary ImmunodeficienciesSemantic proximity Read ↗

A Novel MSN Mutation Impairs CD4+ T cell Differentiation and Drives Autoantibody Production.Semantic proximity Read ↗

Contribution of high‐throughput DNA sequencing to the study of primary immunodeficienciesSemantic proximity Read ↗

Utility of next generation sequencing in clinical primary immunodeficiencies.Semantic proximity Read ↗

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