Antiphospholipid antibodies in autoimmune thyroid diseases.

Background: Antiphospholipid (aPL) antibodies have been reported in several autoimmune diseases. The aim of this study was to evaluate the frequency of aPL (anti-cardiolipin antibodies (aCL) and anti-β2 glycoprotein I antibodies (aβ2GPI)) in patients with autoimmune thyroid diseases (AITD).

Methods: One hundred and ninety-five patients with AITD (139 Hashimoto's thyroiditis (HT) patients and 56 Graves' disease (GD) patients) and 90 healthy blood donors (HBD) were studied.

IgA anti-beta-2 glycoprotein I antibodies in chronic hepatitis C.

Background And Study Aims: Antiphospholipid antibodies (aPL) have been reported not only in various autoimmune conditions but also in other infections, such as chronic hepatitis C (CHC) infection. The aim of this study is to evaluate the frequency of aPL in patients with CHC.

Patients And Methods: Ninety-six CHC patients and 90 healthy blood donors (HBD) were studied.

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.

Familial aggregation of hematological malignancies has been reported highlighting inherited genetic predisposition. In this study, we targeted four candidate genes: JAK2 and RUNX1 genes assuring a prominent function in hematological process and CBL and NPM1 as proto-oncogenes. Their disruption was described in several sporadic hematological malignancies.

(C)ce(s) haplotype screening in Tunisian blood donors.

Background: The (C)ce(s) haplotype, mainly found in black individuals, contains two altered genes: a hybrid RHD-CE-D(s) gene segregated with a ce(s) allele of RHCE with two single nucleotide polymorphisms, c. 733C>G (p.Leu245Val) in exon 5 and c.

Molecular study of the perforin gene in familial hematological malignancies.

Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated.