Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

X-linked immunodeficiency with hyper-IgM (HIGMX-1) is a rare disorder caused by defective expression of the CD40 ligand (CD40L) by activated T lymphocytes, resulting in inefficient T-B cell cooperation and failure of B cells to undergo immunoglobulin isotype switch. In the present work, we describe nine patients of various ancestry who bear different mutations in the X chromosome-specific CD40L gene. Two of the mutations were nonsense mutations, one each resulting in premature stop codons at amino acid residues 39 and 140.

In vitro sensitivity of human erythroid progenitors to hemopoietic growth factors: studies on primary and secondary polycythemia.

Background: Primary proliferative polycythemia is a clonal disease characterized by excessive hemopoiesis and associated with a lower than normal erythropoietin plasma level; in vitro colony studies may reveal increased sensitivity of the abnormal clone to hemopoietic growth factors.

Materials And Methods: We studied the in vitro formation of erythroid colonies (BFU-E derived clone) in cultures set up with a serum-free medium and containing Epo, interleukin 3 (IL-3) and stem cell factor (SCF), in various combinations. The clonogenic test was performed by plating non adherent mononuclear cells from the peripheral blood of normal subjects and from patients with PPP and secondary polycythemia (SP).

ZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT.

We have previously mapped a zinc finger genomic motif (ZNF75) to the Xq26 cytogenetic band by using a hybrid panel. Here, we report the isolation of the transcribed counterpart in a cDNA clone and its further localization. The cDNA clone, from a lung fibroblast library, is assembled from three exons, including a 289 amino acid (AA) long open reading frame containing a recently described motif, the Kruppel-associated box, 42 AA long, in exon 2.

Overexpression of p185 is not related to erbB2 amplification in ovarian cancer.

Background: While in breast cancer the amplification and overexpression of the erbB2 gene has been reported in numerous studies and found to be correlated to poor prognosis, information about this oncogene with respect to ovarian cancer is still limited. A recent study reported that approximately 30% of tumor biopsies from ovarian cancer patients exhibited erbB2 amplification and overexpression and suggested that the overexpression of this oncogene is an indicator of bad prognosis in ovarian cancer. The purpose of our studies was to investigate amplification of the erbB2 gene, the levels of erbB2 m-RNA and the erbB2 product (p185) in ovarian cancer, and the correlation between these findings and the pathological and clinical features.