			Home About us Contact

Recurrent Bacterial Infections (recurrent + bacterial_infections)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

Common variable immunodeficiency: 20-yr experience at a single centre

PEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 2 2009
Ma Pilar Llobet
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. It can present at any age in patients with a history of recurrent bacterial infections, with or without a family history of other primary immunodeficiencies (PID), and shows a wide range of clinical manifestations and immunological data. Diagnosis is based on low IgG, IgM and/or IgA levels. Delayed diagnosis and therapy can lead to bronchiectasis and malabsorption. The aim of this study was to describe a paediatric population diagnosed of CVID and its evolution in the population. Memory B-cell (MB) classification carried out in these patients was correlated with clinical manifestations and outcome. Clinical and immunological data of 22 CVID children under 18 yr treated at our centre between 1985 and 2005 are presented. Immunological studies included those for diagnosis and MB quantification. Differences in form of presentation, familial incidence and MB classification were reviewed. A statistical descriptive analysis was made. Infections were the commonest manifestation, affecting mainly respiratory (19/22) and gastrointestinal (10/22) tracts. Bronchiectasis was present in seven cases, and detected prior to CVID diagnosis in five. Replacement therapy led to a significant reduction in the number of infections. Severe complications appeared mostly in patients without MB. Patients of the same family share the same MB group. Family members had also been diagnosed of CVID in seven cases. Early diagnosis and therapy are essential to improve outcome in these patients. MB studies are useful in children to orient prognosis and further genetic studies. [source]

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

PEDIATRIC DIABETES, Issue 3pt1 2008
Doris Taha
Abstract:, Pancreatic agenesis is a rare cause of neonatal diabetes mellitus (NDM). It can be associated with malformations of the heart, the biliary tract, and the cerebellum. We report an infant with NDM because of pancreatic agenesis, intra-uterine growth retardation, dysmorphic features, and recurrent bacterial infections. He was born to healthy consanguineous parents. With adequate replacement of insulin and pancreatic enzymes, his blood glucose levels were controlled and his weight slowly increased. However, he continued to develop recurrent serious bacterial infections and died at the age of 11 months with sepsis and respiratory failure. Analysis of the PTF1A and PDX1 genes, which have been associated with congenital agenesis of the pancreas, did not reveal any mutation. Genetic abnormalities of chromosome 6 associated with transient neonatal diabetes as well as mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic potassium channel were also excluded as a cause of the NDM in this patient. The association of permanent neonatal diabetes because of pancreatic agenesis, dysmorphism, and non-specific immunodeficiency is previously undescribed and may represent a new possibly autosomal recessive syndrome. [source]

Transcriptional regulatory defects in the first intron of Bruton's tyrosine kinase

PEDIATRICS INTERNATIONAL, Issue 6 2008
Dong-Min Shin
Abstract Background: X-linked agammaglobulinemia (XLA), characterized by the early onset of recurrent bacterial infections, profound hypogammaglobulinemia, and a markedly diminished number of peripheral B lymphocytes, is caused by mutations in the Bruton's tyrosine kinase (BTK) gene. The >600 unique mutations identified to date include single base pair substitutions, small insertions or deletions, and gross deletions. A few cases, however, have been found to have no mutations in the coding region even with reduced BTK mRNA or protein expression. Mutations in intron 1 positions +5 (G,A) and +6 (T,G) of the BTK gene have been identified, and these changes were associated with reduced transcriptional activity. Methods: In the present study a novel mutation in intron 1 position +5 (G,T) was identified in a Japanese patient with XLA. The reporter constructs containing these mutations were made, and the reporter activities were measured using a luciferase assay. Results: All the mutant constructs were demonstrated to have reduced transcriptional activity. Conclusions: Positions +5 and +6 in intron 1 of the BTK gene are critical for transcriptional activity, and defects in these regions cause XLA. [source]

Intravenous immunoglobulins in infectious diseases: where do we stand?

CLINICAL MICROBIOLOGY AND INFECTION, Issue 5 2003
L. Mouthon
Intravenous immunoglobulins (IVIg) are therapeutic preparations of normal human IgG that have been used for more than 20 years for substitutive therapy in patients with primary antibody deficiencies. Recent studies pointed out the need to obtain normal residual levels of IgG (i.e. 8 g/L) in order to reduce the number and severity of bacterial infections in these patients. The IVIg are also prescribed for the substitutive therapy of secondary immunodeficiencies such as chronic lymphoid leukemia and multiple myeloma with hypogammaglobulinemia and severe and/or recurrent infections, and human immunodeficiency virus (HIV)-infected children with recurrent bacterial infections before the era of highly active antiretroviral agents. However, in the latter situation, no recent study has evaluated IVIg therapy in acquired immunodeficiency syndrome (AIDS) children receiving highly active antiretroviral agents (HAART), and the use of IVIg must probably be restricted to the currently rare clinical situation in Western Europe of children with AIDS who develop recurrent infections despite the administration of HAART and prophylactic cotrimoxazole. IVIg have also been reported to prevent infections, interstitial pneumonia and graft-vs. host disease during the first 90 days post-transplant in allogeneic bone-marrow transplant recipients. However, this result was not confirmed by two recent studies and IVIg therapy should probably only be proposed for a subgroup of bone-marrow allografted patients such as those with hypogammaglobulinemia and sepsis. With the exception of erythrovirus B19 infection with erythroblastopenia, no clear benefit of IVIg therapy has been reported for the curative management of other infectious diseases. [source]