ArticleInternational journal of hematology2009
Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.
Article in International journal of hematology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.Journal of clinical immunology · 2021Trial
- Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.Journal of translational medicine · 2026Article
- Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.Frontiers in pediatrics · 2026Article
- DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.Genetics and molecular biology · 2022Article
- Normal Numbers of Stem Cell Memory T Cells Despite Strongly Reduced Naive T Cells Support Intact Memory T Cell Compartment in Ataxia Telangiectasia.Frontiers in immunology · 2021Article
- Article
- B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection.Journal of virology · 2017Article
- Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.Frontiers in neurology · 2017Article
- Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance.Diabetic medicine : a journal of the British Diabetic Association · 2016Article
- ATM facilitates mouse gammaherpesvirus reactivation from myeloid cells during chronic infection.Virology · 2015Article
- Ataxia-telangiectasia with novel splicing mutations in the ATM gene.Annals of laboratory medicine · 2014Article
- Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.Annals of laboratory medicine · 2013Article
- Ataxia telangiectasia mutated kinase controls chronic gammaherpesvirus infection.Journal of virology · 2012Article
- Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Human mutation · 2012Article
- Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report.Italian journal of pediatrics · 2010Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A nationwide survey was conducted for identifying ataxia-telangiectasia (AT) patients in Japan. Eighty-nine patients were diagnosed between 1971 and 2006. Detailed clinical and laboratory data of 64 patients including affected siblings were collected. Analyses focused on malignancy, therapy-related toxicity, infection, and hematological/immunological parameters. The phenotypic variability of AT was assessed by comparing 26 affected siblings from 13 families. Malignancy developed in 22% of the cases and was associated with a high rate of severe therapy-related complications: chemotherapy-related cardiac toxicity in 2 children, and severe hemorrhagic cystitis requiring surgery in 2 patients. The frequency of serious viral infections correlated with the T cell count. Hypogammaglobulinemia with hyper-IgM (HIGM) was recorded in 5 patients, and 3 patients developed panhypogammaglobulinemia. Differences in immunological parameters were noted in siblings. Four patients showed an HIGM phenotype, in contrast to their siblings with normal IgG and IgM levels. The patients with HIGM phenotype showed reduced levels of TRECs and CD27+CD20+ memory B cells. The findings suggest that hitherto unidentified modifier genes or exogenous environmental factors can influence the overall immune responses. Our data along with future prospective study will lead to better understanding of the hematological/immunological phenotypes and to better care of the patients.
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