The natural history of ataxia-telangiectasia (AT): a systematic review
E Petley, A Yule, S Alexander, S Ojha… - PLoS One, 2022 - journals.plos.org
Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management
Introduction Ataxia-telangiectasia (AT) is a rare autosomal recessive syndrome
characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable …
characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable …
Atypical ataxia presentation in variant ataxia telangiectasia: Iranian case-series and review of the literature
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
disorder. A minority of AT patients can present late-onset atypical presentations due to …
disorder. A minority of AT patients can present late-onset atypical presentations due to …
Effect of class switch recombination defect on the phenotype of ataxia-telangiectasia patients
ABSTRACT Objectives: Ataxia-telangiectasia (AT) is an autosomal recessive
neurodegenerative disorder with multisystem involvement caused by homozygous or …
neurodegenerative disorder with multisystem involvement caused by homozygous or …
Investigation of serum total IgE and eosinophil levels in different allergic diseases together with the study of their correlations with various possible allergens in Mosul …
HA Altaii, FMD Al-Tae - Immunological Investigations, 2022 - Taylor & Francis
Serum total IgE (tIgE) is frequently used in the diagnosis of allergic diseases in Mosul city
and Iraq. However, neither normal nor elevated levels can exclude or confirm the diagnosis …
and Iraq. However, neither normal nor elevated levels can exclude or confirm the diagnosis …
Analysis of Clinical and Genetic Characterization of Three Ataxia–Telangiectasia Pedigrees With Novel ATM Gene Mutations
P Huang, L Zhang, L Tang, Y Ren, H Peng… - Frontiers in …, 2022 - frontiersin.org
Objective The clinical manifestations of ataxia–telangiectasia (AT) are very complex and are
easily misdiagnosed and missed. The purpose of this study was to explore the clinical …
easily misdiagnosed and missed. The purpose of this study was to explore the clinical …
Primary immunodeficiency and thrombocytopenia
M Mohtashami, A Razavi, H Abolhassani… - International Reviews …, 2022 - Taylor & Francis
Primary immunodeficiency (PID) or Inborn errors of immunity (IEI) refers to a heterogeneous
group of disorders characterized by immune system impairment. Although patients with IEI …
group of disorders characterized by immune system impairment. Although patients with IEI …
[HTML][HTML] A Rare Clinical Finding in Ataxia Telangiectasia: Granulomatous Skin Lesion
S Naiboğlu, S Ulaş, I Turan, FE Çipe… - Turkish Archives of …, 2024 - ncbi.nlm.nih.gov
Granulomas have been described in chromosomal breakage syndromes (AT or Nijmegen
fracture syndrome), as well as in other primary immunodeficiencies such as common …
fracture syndrome), as well as in other primary immunodeficiencies such as common …
In ataxia-telangiectasia, oral betamethasone administration ameliorates lymphocytes functionality through modulation of the IL-7/IL-7Rα axis paralleling the …
R Prencipe, E Cirillo, G Giardino, V Gallo… - Immunological …, 2021 - Taylor & Francis
Ataxia-Telangiectasia (AT) is characterized by cerebellar neurodegeneration and
immunodeficiency. Recent studies suggest that very low glucocorticoids (GCs) doses may …
immunodeficiency. Recent studies suggest that very low glucocorticoids (GCs) doses may …
Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients
Background Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder caused by
mutations in the ataxia telangiectasia mutated (ATM) gene. AT patients manifest …
mutations in the ataxia telangiectasia mutated (ATM) gene. AT patients manifest …