[Frequency of opportunistic infections in children with immune neutropenia and their mothers].

Aim: Determine the frequency of opportunistic infections among children with immune neutropenia and their mothers.

Materials And Methods: 66 mothers and 66 children with immune neutropenia diagnosis were examined for the presence of herpes (HV) and pneumocystic infection. Opportunistic infections markers (IgM, IgG, early and late antigens, virus reproduction) were determined by enzyme immunoassay, immunofluorescence reaction and rapid culture method (vero, u937, human fibroblasts).

Four novel ELANE mutations in patients with congenital neutropenia.

Congenital neutropenia is a heterogeneous bone marrow failure syndrome characterized by a maturation arrest of myelopoesis at the promyelocyte/myelocyte stage. Cyclic neutropenia (CyN) and severe congenital neutropenia (SCN) are two main forms of congenital neutropenia. Genetic analysis has shown that heterozygous mutations in the ELANE gene encoding the neutrophil elastase are the major cause of these disorders.

[Toll-like receptor-mediated functional activity of mononuclear cells in children with neutropenia].

Aim: To study the Toll-like receptor (TLR)-mediated functional activity of peripheral blood mononuclear cells (PBMC) from children with different forms of neutropenia.

Materials And Methods: TLR-mediated functional activity of PBMC was evaluated by production of proinflammatory cytokines--TNF alpha and IFN alpha. Ligands for TLR1/2, TLR 2/6, TLR4, TLR5, and TLR9 were used to stimulate TNF alpha production by PBMC from healthy children and children with neutropenia.