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Ataxia-telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder that is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency. Delay in diagnosis or misdiagnosis is probable due to its wide clinical heterogeneity in infancy. Recurrent sinopulmonary infections are often the only presenting symptom and usually patients have decreased immunoglobulins. A total 10% of patients who present with decreased serum immunoglobulin G and A and with normal or elevated immunoglobulin M levels are often misdiagnosed as hyperimmunoglobulin M syndrome. Definitive diagnosis is made if a patient with progressive cerebellar ataxia has a disease causing mutation on the ATM gene. Ataxia-telangiectasia guideline of the European Society for Immunodeficiencies defines the probable diagnosis criteria. We evaluated twenty ataxia-telangiectasia patients (mean age 13.8±4.1 years) retrospectively who were followed-up for a mean of 38.6±27.0 months. Twelve patients had a family history of consanguinity. A total of 80% patients suffered from various infections. Neoplasms occurred in three of them. Patients showed immunological abnormalities as low IgG (45%), low IgA (65%) and elevated IgM (60%) levels. CD3+CD4+T lymphocyte frequency was low in 45% patients. The mean AFP concentration at the diagnosis was 191.9±140.1 ng/ mL and the raised IgM values did not show any statistically significant relationship with high AFP concentrations. Frequency of the elevated IgM concentrations in (60%) patients raises the concerns about thinking this finding has to be accepted as a probable diagnosis criterium.

Abstract.: The absence of B cells and a severe decrease in CD8+28+ cells were observed in two female children with CD4+ T cell lymphocytopenia. Idiopathic (primary) CD4+ lymphocytopenia is a rare entity and its pathogenesis and genetics are not yet known. The literature was reviewed, in particular for severe alterations in B and CD8+28+ cells and for the role of NF-kappa B and p56lck in the immunopathogenesis. Whether the underlying mechanism in idiopathic CD4+ lymphocytopenia is found or not, these patients who present with severe symptoms of a combined immunodeficiency must be treated with intravenous immunoglobin regularly until they have a compatible donor for bone marrow transplantation.

Recently, close interactions have been described between the tumour necrosis factors alpha and beta (TNF-alpha and beta), interferon-gamma (INF-gamma) and intercellular adhesion molecule-1 (ICAM-1) in T-cell mediated immune activation. During the process of renal graft rejection, the properties of these cytokines to act as powerful stimulators of macrophages, to upregulate class II MHC expression and to stabilise cell-to-cell binding make them of great potential interest. The aim of the present study was to determine the plasma levels of each cytokine and soluble ICAM-1 in 16 renal allograft recipients. We examined plasmas of patients for the first 2 weeks after transplantation and correlated results with the clinical pattern of rejection. Our data suggest an immunopathologic involvement of TNF-alpha, TNF-beta and slCAM-1 in renal allograft rejection and showed that there was a significant elevation in plasma concentrations of these parameters 2 or 3 days prior to the diagnosis of clinical rejection. Rises in INF-gamma did not appear to be significant with regard to rejection as very high levels were found in patients showing no evidence of clinical rejection.

Over the past few years, the central role of cytokines in the amplification of the immune response has been reported and several studies have examined the relationship between the plasma level of individual lymphokines during renal allograft rejection. The aim of the present investigation was to study simultaneously IL-2, IL-3, IL-4, IL-6, IL-8, and soluble CD23. Analysis of results has allowed both the prognostic value and any possible interrelationships between the measured cytokines to be determined.

The concentrations of secretory IgA (sIgA) in the saliva and the concentrations of free secretory components (FSC) both in the saliva and gastric fluid of patients with Helicobacter pylori HP-positive gastritis and of a control group with functional recurrent abdominal pain (RAP) were measured in order to determine whether there is a deficiency of these non-specific local defence factors in children with HP infection. Eighteen patients with HP-positive gastritis and 12 children with RAP were included in the study and sIgA and FSC concentrations were analysed using the radial immunodiffusion technique. In contrast to our initial hypothesis, the concentrations of FSC in saliva and gastric fluid and sIgA in saliva of patients with HP infection showed no significant difference when compared with children who do not have an organic disease and HP infection. It is suggested that these local defence factors are not involved in the pathogenesis of HP-positive gastritis.

Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these cytokines are involved in abnormalities in erythropoiesis and immune responses as observed in thalassemic patients. No significant difference was found in plasma IL-7 concentrations between thalassemic patients and healthy controls and it was suggested that IL-7 is not a cytokine involved in cellular immunological alterations in beta-thalassemia. However, the number of thalassemic patients with detectable IL-3 concentrations was significantly higher. It was concluded that IL-3 production has to be studied in detail in order to learn more about the involvement of this cytokine in erythropoiesis of thalassemic patients.