Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The results of immunological and purine enzyme investigations in an adult male patient with common variable immunodeficiency, recurrent lymph node granuloma and splenomegaly are presented. Serum immunoglobulins were present in trace amounts only and a progressive loss of Ig-bearing peripheral lymphocytes were demonstrated. Furthermore, the mitogenic responses to PHA. ConA and PWM were markedly reduced and the ratio of T.m/T.g cells was decreased. Finally, a combined deficiency of lymphocyte purine 5-nucleoside phosphorylase was demonstrated in the patient.
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PMID:Common variable immunodeficiency and purine nucleotidase and nucleoside phosphorylase deficiency. A case report. 626 34

Autoimmune manifestations are increasingly being recognized as a component of several forms of primary immunodeficiencies (PID). Defects in purging of self-reactive T and B cells, impaired Fas-mediated apoptosis, abnormalities in development and/or function of regulatory T cells, and persistence of immune activation as a result of inability to clear infections have been shown to account for this association. Among autoimmune manifestations in patients with PID, cytopenias are particularly common. Up to 80% of patients with autoimmune lymphoproliferative syndrome (ALPS) have autoantibodies, and autoimmune hemolytic anemia and immune thrombocytopenia have been reported in 23% and 51% of ALPS patients, and may even mark the onset of the disease. ALPS-associated cytopenias are often refractory to conventional treatment and represent a therapeutic challenge. Autoimmune manifestations occur in 22% to 48% of patients with common variable immunodeficiencies (CVIDs), and are more frequent among CVID patients with splenomegaly and granulomatous disease. Finally, autoimmune cytopenias have been reported also in patients with combined immunodeficiency. In particular, autoimmune hemolytic anemia is very common among infants with nucleoside phosphorylase deficiency. While immune suppression may be beneficial in these cases, full resolution of the autoimmune manifestations ultimately depends on immune reconstitution, which is typically provided by hematopoietic cell transplantation.
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PMID:Primary immunodeficiencies (PIDs) presenting with cytopenias. 2000 92