Swiss agammaglobulinemia

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.

Swiss agammaglobulinemia

Immunology An AR form of SCID, with a high mortality in early infancy due to a severe diarrhea, malabsorption with disaccharidase deficiency, villar atrophy; defective cellular and humoral immunity, infection by a menagerie of opportunistic pathogens–eg, Candida albicans, CMV, measles, PCP, varicella, GVHD Lab Lymphocytopenia, anemia, ↑ liver enzymes, electrolyte imbalance 2º to chronic diarrhea Treatment Antibiotics, gammaglobulins; HLA-matched BMT. See Adenosine deaminase deficiency, Severe combined immunodeficiency.
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