Hypomorphic Variant | List of Frontiers open access articles

Case Report

Published on 22 Dec 2021

Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles

in Primary Immunodeficiencies

Satoshi Inaba
Yuta Aizawa
Yuki Miwa
Chihaya Imai
Hidenori Ohnishi
Hirokazu Kanegane
Akihiko Saitoh

Frontiers in Immunology

doi 10.3389/fimmu.2021.786164

5,339 views
4 citations

Original Research

Published on 07 Jul 2023

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

in Genetics of Common and Rare Diseases

Jing Liu
Zhongjie Wang
Huiming Yan
Yanling Teng
Qingxin Shi
Jing Chen
Wanglan Tang
Wenxian Yu
Ying Peng
Hui Xi

Frontiers in Genetics

doi 10.3389/fgene.2023.1172947

5,100 views
6 citations

Original Research

Published on 18 Mar 2025

Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia

in T Cell Biology

Andrea González-Torbay
Keren Reche-Yebra
Álvaro Clemente-Bernal
Yolanda Soto Serrano
Luz Yadira Bravo-Gallego
Almudena Fernández López
Rebeca Rodríguez-Pena
María Bravo García-Morato
Eduardo López-Granados
Lucía del Pino-Molina

Frontiers in Immunology

doi 10.3389/fimmu.2025.1544863

3,054 views
1 citation

Case Report

Published on 05 Nov 2021

Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

in Pediatric Nephrology

Martin Bezdíčka
Dana Zemková
Sylva Skálová
Eva Hovorková
Miroslav Podhola
Jan Burkert
Jakub Zieg

Frontiers in Pediatrics

doi 10.3389/fped.2021.752878

2,807 views
5 citations

Case Report

Published on 26 Nov 2019

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

in Pediatric Nephrology

Eva Pauline Macheroux
Matthias C. Braunisch
Stephanie Pucci Pegler
Robin Satanovskij
Korbinian M. Riedhammer
Roman Günthner
Oliver Gross
Mato Nagel
Lutz Renders
Julia Hoefele

Frontiers in Pediatrics

doi 10.3389/fped.2019.00485

6,876 views
13 citations

Case Report

Published on 21 May 2019

Systemic Epstein–Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants

in Pediatric Immunology

Masataka Ishimura
Katsuhide Eguchi
Akira Shiraishi
Motoshi Sonoda
Yoshihiro Azuma
Hiroyuki Yamamoto
Ken-ichi Imadome
Shouichi Ohga

Frontiers in Pediatrics

doi 10.3389/fped.2019.00183

9,015 views
31 citations

Articles

Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia

Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

Systemic Epstein–Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants