Nural Kiper

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BACKGROUND Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide. METHODS We identified nine children with severe diffuse interstitial lung disease due to CSF2RA mutations. Clinical course, diagnostic findings and treatment were evaluated and correlated to the genotype.(More)
Bronchiectasis is still common among some developing countries like Turkey. The aim of this study was to document the number of children with non-cystic fibrosis (CF) bronchiectasis, to evaluate the risk factors and to emphasize early diagnosis and treatment. All children, except those diagnosed with CF, with bronchiectasis established by chest radiogram,(More)
Interstitial lung disease (ILD) is a rare and heterogeneous group of disorder affecting the lung parenchyma and has a detrimental effect on gas exchange. Chronic granulomatous disease (CGD), when it affects primarily lungs, may cause ILD. We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who atypically presented with ILD. The(More)
Patients with congenital immunodeficiency (CID) syndromes are susceptible to various microorganisms. However, relatively few CID disorders develop mycobacterial disease. We describe clinical features, laboratory findings and therapeutic outcome of children with CID who had tuberculosis disease. Medical reports of 10 patients were reviewed. Three patients(More)
Severe type I plasminogen deficiency is the underlying cause of ligneous conjunctivitis (LC). Furthermore, pseudomembranes may also be found on other mucous membranes (gastrointestinal tract, bronchial system, genital tract). In very rare cases, congenital hydrocephalus has been associated with the more severe forms of the disease and may even precede LC.(More)
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