An 11-year-old girl was diagnosed with
ataxia telangiectasia when she was a toddler (18 months old).
Cutaneous granulomas in
ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?
The first report of a family with
ataxia telangiectasia is attributed to Syllaba and Henner (1926).
Caffeine inhibits activation of
ataxia telangiectasia mutated (ATM), and
ataxia telangiectasia and Rad3 related (ATR) proteins.
While the signs of cerebellar dysfunction had started acutely, their continuation for more than 2 weeks prompted further investigation for an inherited cause of progressive chronic ataxia (our differential diagnosis included
ataxia telangiectasia (no telangiectasia were present clinically and the immunoglobulin levels were normal), abetalipoproteinaemia, Friedreich's ataxia and spinocerebellar ataxia.
(20) Another member of PIKK family is ATM, which is mutated in a genetic disorder,
ataxia telangiectasia. (21) ATM binds to and is activated by DSB via NBS1/ MRE11/RAD50 (Nijmegen breakage syndrome 1, meiotic recombination 11, radiation sensitivity 50, respectively) complex.
The team demonstrated, for the first time, that mice deficient in the Wip1 gene were resistant to weight gain and atherosclerosis via regulation of the
Ataxia telangiectasia mutated gene (ATM) and its downstream signalling molecule mTor.
Other diseases of connection to Sephardi origin include: Alpha-Thalassemia,
Ataxia Telangiectasia, Corticosterone Methyloxidase Type II Deficiency, Costeff Optical Atrophy, Cystic Fibrosis (CF), Familial Creutzfeldt-Jakob Disease, Familial Tumoral Calcinosis (Normophosphatemic Type), Inclusion Body Myophy Type 28, Metachromic Leukodystrophy, Polyglandular Deficiency Syndrome, Pseudocholinesterase Deficiency, Spinal Muscular Athrophy (S.MA) and Wolman Disease.
The
Ataxia Telangiectasia Mutated (ATM) gene is one candidate for such a susceptibility gene.
(2.) Hosoi H, Sawada T:
Ataxia telangiectasia. Nippon Rinsho.