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 infant with idiopathic hypoparathyroidism was found to have no evidence of thymus by radiologic examinations, including pneumomediastinum. Immunoglobulin concentrations were normal but there was clear evidence of inadequate cellular immunity including gradually developing lymphopenia. The infant suffered recurrent diarrhea and pneumonia, chronic rhinorrhea and moniliasis. At age 7 months fetal thymic tissue was implanted in the rectus abdominis muscle. There was immediate increase in lymphocyte counts which have remained normal on most determinations. Other aspects of immunologic function were restored and remain intact. The child, now 6 years of age, although mentally retarded, has no unusual infections. Immunologic reconstitution was thus achieved by transplant of fetal thymus.
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PMID:Immunologic reconstitution in the DiGeorge syndrome by fetal thymic transplant. 114 86

Hypoparathyroidism (hypocalcemia, hyperphosphatemia, mild hypomagnesemia, and inappropriately low serum C-terminal parathyroid hormone concentration) was found in six members of a family representing three successive generations. No patient had aortic arch or conotruncal malformations, lymphopenia, or features of type I or type II autoimmune polyglandular syndromes. Two individuals had transient neonatal seizures without further difficulties despite persistent hypocalcemia. None of the four affected adults has had major complications of hypoparathyroidism (mental retardation, cataracts, or seizures). We believe that persistence of hypoparathyroidism after resolution of neonatal hypocalcemic seizures should prompt a survey of the family for hypoparathyroidism.
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PMID:Autosomal dominant hypoparathyroidism with variable, age-dependent severity. 688 2

Patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) typically exhibit thymic hypoplasia, conotruncal cardiac defects, and hypoparathyroidism. The immunodeficiency that results from the thymic hypoplasia has been extensively described and consists primarily of T-cell lymphopenia. A curious feature of the T-cell lymphopenia is that the age-related rate of decline of T-cell numbers is slower in patients than controls. This leads to T-cell numbers in adulthood that are minimally decreased compared with controls. This suggests that homeostatic mechanisms might be acting to preserve the peripheral blood T-cell numbers in patients. We characterized changes in CD4/CD45RA and CD4/CD45RO T-cell populations in patients and controls of various ages and determined T-cell recombination excision circles and telomere length within the CD4/CD45RA population. Patients had evidence of accelerated conversion of naive to memory cells and had evidence of more extensive replicative history within the CD4/CD45RA compartment compared with controls. Oligoclonal T-cell receptor (TCR) Vbeta families and missing Vbeta families were seen more often in patients than controls. These data are consistent with homeostatic proliferation of T cells in patients with limited T-cell production due to thymic hypoplasia.
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PMID:T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. 1452 74