[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.

[Cyclic neutropenia: a disease or a syndrome?].

Peripheral blood and bone marrow morphology, blood and bone marrow lymphocyte subpopulation composition were studied in two children with cyclic neutropenia, using flow cytofluorometry, monoclonal antibodies, colony-forming capacity of granulocytic macrophagal precursors in semi-fluid agar. The studies were conducted in varying periods of the neutropenic cycle. Differences were revealed in immunohematologic parameters and clinical course of neutropenia in the two patients.

[Phenotyping of blood and bone marrow lymphocytes in children with primary immunologic deficiency].

Subpopulational composition of peripheral blood and bone marrow lymphocytes was studied in 17 children with different forms of immunodeficiency, combined with hematological shifts (agammaglobulinemia--6, mucocutaneous candidiasis--2, selective IgG-deficiency--2, hyper-IgM syndrome--3, cephalo-oculocutaneous telangiectasia (COCT)--2, general, variable immunodeficiency--2 patients; neutropenia was observed in all the patients, lymphopenia--in 13, anemia-in 6 patients. Surface markers were assayed by flow cytofluorometry with monoclonal antibodies OKT3, OKT4, OKT8, OKB7, produced by "Ortho diagnostics". Changes characteristic of certain forms of primary immunodeficiency have been revealed in the subpopulational composition of peripheral blood and bone marrow lymphocytes: decreased helper potential in patients with general variable immunodeficiency, T-lymphocyte deficiency in patients with COCT increased number of phenotype T3 cells and decreased amount of B-cell in agammaglobulinemia patients.

[Immunohematologic characteristics and course of chronic neutropenia in children with severe decrease of granulocyte maturation].

The clinical course and some immunohematologic parameters of the blood and bone marrow were investigated in chronic neutropenia children with a high break of granulocyte maturation. Heterogeneity of etiopathogenetic mechanisms of the disease has been recorded in this group of children.