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)

Interleukin-2 receptor (IL-2R) is expressed on activated lymphocyte after stimulation with antigen or interleukin-2 (IL-2), meanwhile soluble form of the receptor is released. Using enzyme-linked immunosorbent assay, serum IL-2R levels were determined in 34 healthy controls, 61 patients with systemic lupus erythematosus (SLE) and 32 patients with rheumatoid arthritis (RA), yielding mean +/- SD values of 355 +/- 89, 807 +/- 453 and 567 +/- 210 U/ml respectively. In both SLE and RA patients, the active disease group had more markedly elevated serum IL-2R levels compared with those of the inactive group. In patients with SLE, elevated serum IL-2R is associated with lymphopenia, renal disorders, decreased C3 level and increased anti-DNA, thus make it a good parameter to monitor disease activity in SLE.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1988 Feb
PMID:Serum interleukin-2 receptor in systemic lupus erythematosus and rheumatoid arthritis. 326 81

The maturing reticulocyte degrades ribosomal RNA to constituent ribonucleoside phosphates. Guanosine ribonucleotides are retained only in small amounts and pyrimidine ribonucleotides only in trace quantities. In the mature erythrocyte more than 97% of total nucleotides are the interconvertible adenosine mono-, di-, and triphosphates. High energy ATP fuels most of the reactions required to sustain viability. Unable to synthesize adenosine phosphates from small precursor molecules, the red cell relies on certain salvage pathways to replenish its losses from the adenosine phosphate pool. The most important of these involve adenosine. Adenylate kinase deficiency, when severe, is associated with nonspherocytic hemolytic anemia. A genetically-determined deficiency of pyrimidine 5'-nucleotidase prevents the normal dephosphorylation of pyrimidine ribonucleotides, and hence is characterized by the unique accumulation of pyrimidine phosphates intracellularly. Other features are chronic hemolytic anemia, splenomegaly, and a profound increase in basophilic stippling on the stained blood film. The syndrome is transmitted as an autosomal recessive disorder. A similar syndrome is found in severe lead poisoning as a consequence of nucleotidase inhibition by lead. An inherited, dominantly transmitted hemolytic anemia associated with low red cell ATP and a 45-70 fold increase in the enzymatic activity of adenosine deaminase has also been documented. The undefined molecular lesion appears to involve overproduction of an entirely normal enzyme protein. Severe deficiency of either of two sequential enzymes of purine metabolism, adenosine deaminase anemia, but by excessive accumulations of deoxyribonucleotides within red cells and lymphocytes. The clinical counterpart of each is a severe immunodeficiency state secondary to lymphopenia and lymphocyte dysfunction. Certain other rare clinical syndromes involving disturbed nucleotide metabolism also are detectable by red cell assay procedures.
 ...
PMID:Erythrocyte disorders of purine and pyrimidine metabolism. 625 19

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.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1980 Mar
PMID:Report of a case of Nezelof syndrome. 744 23

Severe combined immunodeficiency (SCID) is a rare pediatric medical emergency in Taiwan. The early diagnosis of infants with SCID is very important because it can save the life of these critical infants. The essential clues important for early diagnosis of SCID patients include positive family history of early infant death, paucity of tonsil and lymphoid tissue, cutaneous fungal infection and lymphopenia. Severe combined immunodeficiency is a heterogeneous group of inherited disorders characterized by the failure of both cellular and humoral immunity. It can be categorized into SCID with B-lymphocytes predominant (T-B+SCID) and SCID with paucity of B-lymphocytes (T-B-SCID), according to the number of B-lymphocytes in the patient's peripheral circulation. We report two male infants with T-B+SCID who had been suffering from severe pulmonary distress with persistent O2 desaturation when they were transferred to our pediatric intensive care unit. Tracing back these infant's family histories, it was discovered that both of them had an elder brother who had died to overwhelming infection within the first year of life, and Pneumocystis carinii pneumonitis (PCP) was confirmed in the elder brother of case 2. After hospitalization, the immune condition of these two infants were evaluated which showed a decrease in T-cell and NK cell number, an increase in B-cell number, and decreased serum levels of all the Igs except IgM, which was elevated in case 1. These were the diagnostic immunological findings for T-B+SCID, which included X-linked SCID and Jak-3-deficient SCID. During hospitalization, severe mucocutaneous candidiasis and PCP were noted and confirmed in case 1 and PCP was highly suspected in case 2. Bone marrow transplantation, the only curable treatment for T-B+SCID at present, could not be performed in these two patients because of their grave clinical condition. Both of them expired due to their progressively downhill pulmonary conditions.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Severe combined immunodeficiency with B-lymphocytes (T-B+SCID): report of two cases. 992 17