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Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case. A boy aged 2.3 years was born from first normal pregnancy with a weight of 3420 gr. Family History. Two brothers of the mother died before the age of 3 years with severe infections, diarrhea, erythroderma, and elevated immunoglobulins class E (IgEs). Since first month of life, our patient suffered from septicemia, pneumonias, pyelonephritis, and meningitis, accompanied with eczematous dermatitis and IgEs up to 4000 IU/L (normal <10). At the age of 1.6 years, he developed type 1 diabetes mellitus (T1DM). He was underweighted (−3.42 SDS) and had some phenotypic features like coarse face, muscle hypotonia, joint hyperextensibility, eczematous dermatitis, and subcutaneous cold abscesses. Autoimmune thyroiditis and celiac disease were excluded. After diabetes, intermittent watery diarrhea appeared with progression to severe intractable form. Finally, aggravating symptoms of nephritis, cachexia, and respiratory insufficiency were the cause for his death at the age of 2 years and 3 months. The DNA analysis at the University of Exeter Medical School established mutation at exon 10 of FOXP3 gene c.1010G >A, p. (Arg337Gln), which confirmed IPEX syndrome. The same mutation in heterozygotic state was found in the mother. A prenatal diagnosis of her second pregnancy ensured a daughter carrier of the mutation.

BACKGROUND: The clinical relevance of specimens from the lower airways is often debatable. However, they are most commonly examined for diagnosing lower respiratory tract infections (LRTIs).AIM: This study aimed to determine the diagnostic value of sputum quality assessment about sputum culture for diagnosing LRTIs in children.METHODS: In six months, a total of 1485 sputum samples were quality assessed by using Bartlett’s grading system. All samples, regardless of their quality, were cultured, identified, and antimicrobial susceptibility testing was performed by Kirby-Bauer disc-diffusion method.RESULTS: Among the acceptable category, defined by Bartlett’s grading system, 132 (63.2%) samples showed culture positivity of which Streptococcus pneumoniae 48 (36.4%) was most commonly isolated, followed by Moraxella catarrhalis 22 (16.7%) and Haemophilus influenza 21 (15.9%). Among the non-acceptable category, 185 (14.5%) samples were culture positive of which most commonly isolated were Escherichia coli, Staphylococcus aureus and Pseudomonas aeruginosa with 64 (34.6%), 54 (29.2%) and 28 (15.1%), respectively.CONCLUSION: Sputum quality assessment is a useful tool for distinguishing the true respiratory pathogens from possible colonising flora for which antibiotic treatment should not be highly considered.

AIM:This study aimed to evaluate the importance of IFN-γ in the diagnosis of pediatric TB and LTBI and to compare the IFN-γ levels.METHODS:We analysed 100 patients examined for possible M. tuberculosis infection or disease at the Institute of Respiratory Diseases in Children, Kozle, Skopje. Patients were divided into 2 groups: TB disease and LTBI. The following parameters were analyzed: demographic characteristics, history of previous exposure to active TB, BCG vaccination and presence of BCG scar, lung X-ray findings, tuberculin skin test by the Monteux method and the value of INF-γ according to the Quantiferon TB gold test, direct samples of acid-alcohol-resistant bacilli of sputum and Löwenstein Jensen cultures. Informed parental consent was obtained for each child included in the study.RESULTS:In the LTBI group 60.9% had a scar from the vaccination while in the TB group 50% had BCG scar. TST induration diameters in children with or without BCG scar were significantly larger in patients with active TB. Children with active TB had significantly higher IFN-γ levels than children with LTBI. The IFN-γ for the cut-off of 0.35 IU/ml, has 64% sensitivity for detection of LTBI, versus 80.6% sensitivity for active disease. Children with close TB contact had significantly higher IFN-γ levels. Correlation between TST induration diameter and IFN-γ levels was stronger in the TB group.CONCLUSION:IFN-γ levels are significantly higher in children with active TB, and children with close contact with TB patient. It has better sensitivity in active TB. Using both tests (IFN-γ and TST) can improve the diagnose of LTBI and TB in countries where vaccination with BCG is widespread.

Escherichia coli infections are becoming increasingly difficult to treat because of emerging antimicrobial resistance, mostly to expanded-spectrum cephalosporins, due to the production of extended-spectrum β-lactamases (ESBLs).Despite extensive studies of ESBL- producing E.coli in adult patients, there is a lack of information about the epidemiology and spread of ESBL organisms in pediatric population. The aim of this study was to examine the gastrointestinal tract as an endogenous reservoir for the respiratory tract colonization with ESBL- E. coli in children, hospitalized because of the severity of the respiratory illness. The study group consists of 40 children with ESBL-producing E. coli strains isolated from the sputum and from the rectal samples. A control group of 15 E. coli isolated from rectal swabs of healthy children were included in the analysis. The comparison of the strains was done by using antimicrobial susceptibility patterns of the stains, and pulsed field gel electrophoresis was performed for molecular typing, using XbaI digestion. 90% of the compared pairs of strains in the study group were with identical antimicrobial susceptibility patterns and indistinguishable in 79.2% by the obtained PFGE – profiles.33.3% (5/15) of confirmed E. coli strains from the control group were found to be ESBL – producers. Resulting band profiles of all isolates demonstrated presence of 12 pulsotypes, with 100% similarity within the pulsotypes. Although, some isolates obtained from different patients were genetically indistinguishable, these strains were not hospital acquired, as none of the patients satisfied the criteria for hospital acquired pneumonia, and there was a lack of an obvious transmission chain. All ESBL –E. coli isolated from sputum in clinical cases were obtained from patients under the age of one. According to the resistance profile of the compared pairs and the PFGE comparison of all isolates, it can be concluded that the gastrointestinal tract is the main reservoir of ESBL-E. coli. Small age in infants is a risk factor for translocation of bacteria, enabling the colonization of the respiratory tract.