Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024312 (lymphopenia)
 4,859 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 18-year follow-up of a young woman who presented at the age of 10 years with a malabsorption syndrome and recurrent chest infections is reported. The serum immunoglobulins, and in particular the IgA, were increased, cell-mediated immunity was impaired but free alpha heavy chains were not detected. A jejunal biopsy showed plasma cell infiltration of the bowel with villous atrophy. Bronchiectasis, recurrent skin infections, and sinusitis were treated with frequent courses of antibiotics and corticosteroids. An initial presumptive diagnosis of cystic fibrosis was excluded by a normal sweat test. Although difficult to classify her exact type of immune deficiency state, the data would appear to conform to the syndrome of cellular immunodeficiency with normal or near normal immunoglobulins and lymphopenia (Nezelof's syndrome).
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PMID:Plasma cell infiltration of the small intestine, recurrent pulmonary infections, and cellular immunodeficiency (Nezelof's syndrome). 405 Jul 63