ArticleFrontiers in immunology2018
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
Article in Frontiers in immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- A Novel MSN Mutation Impairs CD4Journal of clinical immunology · 2026Article
- Chemical and Mechanical Regulation of Leukocyte Migration.Cold Spring Harbor perspectives in biology · 2026Review
- Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.Nature reviews. Immunology · 2026Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection.Journal of clinical immunology · 2025Article
- Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia.Case reports in immunology · 2024Article
- Inherited human ezrin deficiency impairs adaptive immunity.The Journal of allergy and clinical immunology · 2023Article
- Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?Clinical medicine insights. Pediatrics · 2023Review
- Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.Frontiers in immunology · 2023Article
- Article
- A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report.Frontiers in genetics · 2022Article
- Hemizygous nonsense variant in the moesin geneFrontiers in immunology · 2022Article
- Argentinian X-MAID Siblings with One of Them Manifesting a Rare Ophthalmological Complication.Journal of clinical immunology · 2021Article
- Mini review: genome and transcriptome editing using CRISPR-cas systems for haematological malignancy gene therapy.Transgenic research · 2021Review
- A Murine Model of X-Linked Moesin-Associated Immunodeficiency (X-MAID) Reveals Defects in T Cell Homeostasis and Migration.Frontiers in immunology · 2021Article
- Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion SyndromeFrontiers in genetics · 2021Article
- Molecular Mechanisms of Leukocyte Migration and Its Potential Targeting-Lessons Learned From MKL1/SRF-Related Primary Immunodeficiency Diseases.Frontiers in immunology · 2021Review
- When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.Journal of innate immunity · 2021Review
- Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.Human genetics · 2020Review
- Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.Frontiers in pediatrics · 2019Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members. A >4 kbp deletion identified by repeated CNV analysis of exome sequencing data along with three damaging missense single nucleotide variants were validated by Sanger sequencing in all family members. Confirmation of the causative role of the candidate gene was performed by qPCR and Western Blot analyses on the proband, family members and a healthy control. Results: CNV identified our previously reported interleukin 25 amplification in the proband; however, the variant was not validated to be a candidate gene for immunodeficiency. WES trio analysis, data filtering and Conclusion: These findings confirm X-linked moesin-associated immunodeficiency in a proband previously undiagnosed up to 24 years of age. This study also highlights the utility of WES for the diagnosis of rare or novel forms of primary immunodeficiency disease.
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Registered trials
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