thymic dysplasia

thymic dysplasia

A 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).

Clinical findings
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)

Lab
Lymphocytopenia, anaemia, increased liver enzymes, electrolyte imbalance secondary to chronic diarrhoea.
 
Management
Aggressive antibiotics, gammaglobulins; HLA-matched BMT.
References in periodicals archive ?
Thymic deficiencies such as Sutton thymic dysplasia (fatal viral infection in young women with a dysplastic thymus) (15) have yet to be excluded.
Fatal disseminated herpesvirus hominis type 2 infection in an adult with associated thymic dysplasia.