thymic dysplasiaA generic term for a clinical condition associated with primary immunodeficiency (e.g., ataxia-telangiectasia) or autosomal recessive MIM 202500 severe combined immunodeficiency disease, which carries a high mortality in early infancy.
Dysplasia in this case is defined as a congenital failure or arrest of embryonic development, which contrasts to the more commonly understood epithelial dysplasia (a premalignant condition).
Severe diarrhoea, malabsorption with disaccharidase deficiency, villus atrophy, defective cellular and humoral immunity, infection by a menagerie of opportunistic pathogens (e.g., Candida albicans, CMV, measles, Pneumocystis carinii, varicella, GVHD)
Lymphocytopenia, anaemia, increased liver enzymes, electrolyte imbalance secondary to chronic diarrhoea.
Aggressive antibiotics, gammaglobulins; HLA-matched BMT.