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At least 307 records · Page 17Linked to original sources
PubMed1996

Analysis of the CDR3 region of the rearranged IgH chain genes in patients with severe combined immunodeficiency and severe lymphopenia.

Human B cell-negative severe combined immunodeficiency (B-SCID) is a primary immunodeficiency disease characterized by both T and B lymphocytopenia and agammaglobulinemia. Although lymphocytes of B-SCID patients express defective recombinase activity and rarely succeed in making Ag receptors, the molecular defect of the human B-SCID remains to be identified. To gain more insight into the human B-SCID defect and its effect on the Ab repertoire, we examined the Ig heavy (H) chain genes of the peripheral blood leaky B cells from three B-SCID patients. Although the number of B cells in their peripheral blood was very limited, we could obtain 41 productive VDJ recombinations from the 58 joints. The recombinations showed a grossly altered pattern characterized by short N nucleotides, short deleted nucleotides from 5' JH segments, immature JH and D segment utilization, absence of VDDJ recombination, and all but one JH segment equal to germline JH segments. Therefore, Ab repertoire of IgH chain gene in human B-SCID was limited because of restricted junctional and combinatorial diversity and few somatic mutations. Furthermore, unusually long P nucleotides were inserted in junctional sequences, which might indicate that resolution of hairpin is impaired in human B-SCID as in the murine SCID.

B-Lymphocytes↗
PubMed1976

[Prognostic evaluation of the absolute lymphopenia during prednisolone therapy of chronic pulmonary sarcoidosis (author's transl)].

From a controlled prednisolone therapy trial 130 patients with chronic pulmonary sarcoidosis who had already finished their drug-therapy were evaluated. The relapse rate was 28.5% within the following two years. It is obvious, that the long-time prognosis of cases with very low absolute numbers of lymphocytes in the peripheral blood (1000 and less/mul) is significantly poorer than in all other cases.

Chronic Disease↗