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Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is a rare autoimmune disease.It is one of the autoimmune polyendocrine syndromes.Most often, IPEX presents with autoimmune enteropathy, dermatitis (eczema), and autoimmune endocrinopathy (most often Type 1 diabetes), but other presentations exist.
There is a broad spectrum of clinical manifestations ranging from cardiomyopathy, developmental delays, [4] leukodystrophy, necrotizing encephalopathy, respiratory failure, hypotonia, [6] cerebral palsy and failure to thrive. [17] Carnitine deficiency is found in about 50% of cases. [18]
Hand, foot, and mouth disease (HFMD) is a common infection caused by a group of enteroviruses. [10] It typically begins with a fever and feeling generally unwell. [10] This is followed a day or two later by flat discolored spots or bumps that may blister, on the hands, feet and mouth and occasionally buttocks and groin.
deficient transcription coupled NER with time-dependent accumulation of transcription-blocking damages; [7] mouse life span reduced from 2.5 years to 5 months; [8]) Ercc1 −/− mice are leukopenic and thrombocytopenic, and there is extensive adipose transformation of the bone marrow, hallmark features of normal aging in mice [6]
Prognosis depends on the individual form of muscular dystrophy. Some dystrophies cause progressive weakness and loss of muscle function, which may result in severe physical disability and a life-threatening deterioration of respiratory muscles or heart. Other dystrophies do not affect life expectancy and only cause relatively mild impairment. [2]
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Mouse heart slice showing dilated cardiomyopathy: Specialty: Cardiology: Symptoms: Feeling tired, leg swelling, shortness of breath, chest pain, fainting [2] Complications: Heart failure, heart valve disease, irregular heartbeat [3] [4] Usual onset: Middle age [5] Types: Tachycardia-induced, [6] [7] others: Causes