Zespół ataksja-teleangiektazja, zespół Nijmegen i zespół DiGeorge’a to wrodzone zaburzenia należące do pierwotnych niedoborów odporności. Zespół ataksja-teleangiektazja, zespół Nijmegen i zespół DiGeorge’a W zespole ataksja-teleangiektazja oraz zespole Nijmegen istotna jest. Ocena radiowrażliwości u pacjentów z zespołem ataksja-teleangiektazja oraz u nosicieli zmutowanego genu ATM z użyciem limfoblastycznych linii.
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Pediatria i Medycyna Rodzinna. Immunodeficiency in children with dysmorphic disorders. Ataxia telangiectasia, Nijmegen breakage syndrome and DiGeorge syndrome are congenital disorders belonging to the category of primary immunodeficiencies.
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They are characterised by remittent infections as well as predisposition to cancer and autoimmune diseases. An important sign of ataxia telangiectasia and Nijmegen breakage syndrome is an increased sensitivity of cells to ionising radiation, while DiGeorge syndrome is additionally characterised by heart defects and endocrine disorders.
What all these diseases have in common are dysmorphic features of different severity, which complement the atxksja picture. The signs and symptoms of the diseases may be inconclusive, they appear at various stages of life and their course is unique for every individual. The aim of the study was teleanfiektazja present the characteristics of each syndrome while drawing special attention to dysmorphic features occurring in patients. It is important for doctors to be able to diagnose characteristic disorders of the phenotype and immune system and to match them to the right genetic syndrome.
Despite atakxja fact that these syndromes are rare and incurable disorders, fast and accurate diagnosis gives patients a chance for telewngiektazja improved quality and length of life. The treatment is only symptomatic, but proper prevention can help to avoid the development of a cancer.
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Zespoły niestabilności chromosomalnych – Wikipedia, wolna encyklopedia
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