[Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity].

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections.

[Combined immunodeficiency with cutaneous manifestations associated with DOCK8 mutation].

Different primary immunodeficiencies present increased levels of IgE and cutaneous infections of viral etiology. We report a case of a 2 y, 8 m old boy with combined immunodeficiency, dermatitis and disseminated molluscum contagiosum. The patient presented high titers of IgE, eosinophilia and pronounced TCD8 lymphopenia.

Comparative study of subcutaneous versus intravenous IgG replacement therapy in pediatric patients with primary immunodeficiency diseases: a multicenter study in Argentina.

Purpose: Several studies have shown that subcutaneous immunoglobulin (SCIG) infusions demonstrate similar efficacy to intravenous Ig (IVIG) in preventing infections in patients with primary immunodeficiency diseases (PID), and are safe and well tolerated in this population. This open, prospective/retrospective, multicenter study was designed to compare the effectiveness, safety and tolerability of a 16 % liquid human IgG preparation (Beriglobina P), administered SC, with previous IVIG treatment in PID pediatric patients in Argentina.

Methods: Fifteen subjects were enrolled in the study, and a total of 13 subjects (aged 6-18 years) completed the 36-week SCIG treatment period.

A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.

Unlabelled: Mutations in the Fas gene (TNFRSF6) are the most common causes of Autoimmune Lymphoproliferative Syndrome (ALPS-FAS).

Purpose: In Argentina almost a third of patients with ALPS-FAS present a missense mutation affecting the extracellular cysteine rich domain 2 of Fas, p.Cys107Tyr (C107Y).

[Highly active antiretroviral therapy in HIV sero-positive children. Disease progression by baseline clinical, immunological and virological status].

Introduction: Highly active antiretroviral therapy (HAART) has been administered to children infected with human immunodeficiency virus (HIV) since 1996. This kind of therapy is effective in achieving viral suppression and stopping disease progression but prolonged administration increases the risk of toxic effects, favours the onset of viral resistance and leads to decreased adherence. The aim of the present study was to determine prognostic factors among clinical, immunological and virological parameters at the beginning of HAART.

Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.

CD40 ligand (CD40L) deficiency is an X-linked combined immunodeficiency characterized by impaired class switch recombination. We analyzed clinical and molecular findings in 11 Argentinian patients from seven unrelated families. The mean age at onset of symptoms was 1.

[L-selectin expression on T lymphocytes and neutrophils in HIV infected children].

The ability of leukocytes to leave the circulation and migrate into tissues is a critical feature of the immune response. L-selectin (CD62L), the leukocyte selectin, mediates the binding of lymphocytes to high endothelial venules of peripheral lymph nodes and is also involved in lymphocyte, neutrophil and monocyte attachment to vascular endothelium at sites of inflammation. In this study L-selectin expression on peripheral T cells and neutrophils was evaluated in 25 HIV infected children, who had not received antiretroviral therapy, and 25 healthy controls.