Gene/Protein Disease Symptom Drug Enzyme Compound
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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

In this report, we present a 5 months old male baby, who suffered from watery diarrhea since 4 days old. From then on, he had been admitted 3 times in 3 different hospitals but the symptoms still bothered him off and on. During the days of hospitalization, sepsis with positive blood culture of Klebsiella was noted. The patient expired at 5 months of age. The T cell count was 20% active T was 0. Delayed hypersensitivity skin tests including Candida (10 X), PHA (10 micrograms), PHA (1 microgram), SK/SD (50 units) were negative. The granulocyte function study showed normal. Immunoglobulin analysis revealed IgG: 1320 mg%, IgA: 120 mg%, IgM: 100 mg%. Agenesis of thymus, failure of lymphoid differentiation and abnormal lymphoid architecture with absence of germinal centers were noted at autopsy. Combined immunodeficiency with normal immunoglobulins (Nezelof syndrome) is a disease of primary immunodeficiency characterized by recurrent infections, failure to thrive, lymphopenia, diminished lymphoid tissue, abnormal structure or agenesis of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody synthesis. Since its original description by Nezelof and associates in 1964, it has been reported on the subsequent occasion. In this report, we present our one experience and review the clinical and laboratory data in 33 reported cases.
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PMID:Report of a case of Nezelof syndrome. 744 23