Interstitial lung disease in the course of the surfactant protein C deficiency coexisting with the primary humoral immunodeficiency - case study

Śródmiąższowe choroby płuc u dzieci są schorzeniami heterogennymi pod względem etiologii i patogenezy. W diagnostyce różnicowej należy uwzględnić czynniki o charakterze infekcyjnym, immunologicznym i metabolicznym, a także uwarunkowany genetycznie niedobór białka C surfaktantu. W pracy przedstawiono przypadek śródmiąższowej choroby płuc w przebiegu niedoboru białka C surfaktantu współistniejącego z pierwotnym niedoborem odporności humoralnej, z uwzględnieniem manifestacji klinicznej, obrazu radiologicznego i histologicznego.The interstitial lung disease in children is a group of disorders heterogeneous in its etiology and pathogenesis. In differential diagnosis infectious, immunological and metabolic factors must be taken into consideration, as well as a genetically determined surfactant protein C deficiency. In the paper a case of interstitial lung disease in the course of the surfactant protein C deficiency coexisting with the primary humoral immunodeficiency is presented, with the discussion concerning clinical manifestation, radiological pattern, and histological findings

Fatal pulmonary complications in an immunodeficient child with chronic active Epstein-Barr virus infection

Primary Epstein-Barr virus infection in children typically presents as infectious mononucleosis and in immunocompetent individuals severe pneumonitis proves to be a rare complication. Chronic active Epstein-Barr virus infection (CAEBV) is associated with multiple life-threatening conditions, including interstitial lung disease with fibrosis and lymphoid and lymphohistiocytic infiltrations. We report on a pediatric patient in whom CAEBV resulted in severe pneumopathy with a fatal outcome.Pierwotne zakażenie wirusem Epsteina-Barra u dzieci manifestuje się najczęściej jako mononukleoza zakaźna i u osób immunokompetentnych zapalenie płuc o ciężkim przebiegu jest rzadkim powikłaniem. Przewlekłe aktywne zakażenie wirusem Epsteina -Barr (CAEBV) jest związane z licznymi zagrażającymi życiu powikłaniami, takimi jak śródmiąższowa choroba płuc z włóknieniem i nacieki limfohistiocytarne. W pracy przedstawiono przypadek dziecka z CAEBV i powikłaniami płucnymi o śmiertelnym przebiegu

Interstitial lung disease associated with surfactant protein B and C deficiencies

Śródmiąższowa choroba płuc u dzieci jest związana etiologicznie i patogenetycznie z heterogenną grupą czynników o charakterze infekcyjnym, immunologicznym i metabolicznym. U dzieci znaczącą rolę odgrywa niedobór białek B i C surfaktantu (SP-B, SP-C), wynikający z defektu ich syntezy lub zaburzenia wytwarzania transportera ABCA3, jak również z upośledzenia innych szlaków metabolicznych. W pracy przedstawiono manifestację kliniczną, obraz radiologiczny, podłoże molekularne i rokowanie w śródmiąższowym zapaleniu płuc związanym z niedoborem SP-B i SP-C.Etiology and pathogenesis of the interstitial lung disease in children result from a heterogeneous group of infectious, immunological and metabolic factors. In children an important role plays a surfactant protein B and C deficiency. SP-C deficiency is determined by it’s defective synthesis or impaired production of ABCA3 transporter, as well as with abnormalities within different metabolic pathways. In the paper clinical manifestation, radiological findings, molecular background and prognosis in interstitial lung diseases associated with SP-B and SP-C defects have been discussed

Radiographic presentation of the bronchial and pulmonary changes in children with selected primary immunodeficiencies

W niniejszej pracy zaprezentowano zagadnienia związane z objawami klinicznymi pierwotnych niedoborów odporności u dzieci. Ze względu na częstą lokalizację narządową zmian w układzie oddechowym w tej grupie schorzeń szczególną uwagę poświęcono przewlekłej chorobie oskrzelowo-płucnej z uwzględnieniem jej przebiegu klinicznego i obrazu radiologicznego w wybranych przypadkach klinicznych.In the paper authors presented issues concerning clinical manifestation of primary immunodeficiency diseases in children. Considering the frequently recognized changes in the respiratory tract in this group of disorders, particular attention was paid to the chronic bronchopulmonary disease taking into consideration it’s clinical course and radiographic presentation in selected cases

Interstitial Lung Disease in the Course of Surfactant Protein C Deficiency Coexisting with Primary Immunodeficiency—A Case Report

Interstitial lung diseases in children are a diverse group in terms of aetiology and pathogenesis. Differential diagnosis shouldinclude infectious, immune, and metabolic disorders and hereditary surfactant protein C deficiency. We report a case ofinterstitial lung disease in the course of surfactant protein C deficiency and primary humoral immunodeficiency, providing adetailed discussion of the clinical, radiological, and histological findings

Śródmiąższowa choroba płuc u dzieci związana z niedoborem białek B i C surfaktantu

Śródmiąższowa choroba płuc u dzieci jest związana etiologicznie i patogenetycznie z heterogenną grupą czynników o charakterze infekcyjnym, immunologicznym i metabolicznym. U dzieci znaczącą rolę odgrywa niedobór białek B i C surfaktantu (SP-B, SP-C), wynikający z defektu ich syntezy lub zaburzenia wytwarzania transportera ABCA3, jak również z upośledzenia innych szlaków metabolicznych. W pracy przedstawiono manifestację kliniczną, obraz radiologiczny, podłoże molekularne i rokowanie w śródmiąższowym zapaleniu płuc związanym z niedoborem SP-B i SP-C

Food allergy in children with hypogammaglobulinemia

AbstractIntroductionAntibody production defects may predispose children to inflammatory pathologies and therefore we hypothesized that this group of immune deficiencies may be associated with food allergy.Objective of the studyTo better characterize the interrelated pathomechanisms of food allergy coexisting with hypogammaglobulinemia in children and to define the relationship between clinical manifestation of antibody production defects and food allergy.Material and methodsTwenty-three children aged from 8 to 88 months regularly followed-up in the pediatric pneumonology, allergology and immunology clinic due to hypogammaglobulinemia concerning one or more major immunoglobulin isotypes were retrospectively reviewed in terms of incidence and manifestation of concomitant food allergy. Information regarding the patient's history of allergic diseases and laboratory data concerning serum levels of immunoglobulins, including total IgE, were obtained from chart review.ResultsClinical symptoms of food allergy were identified in 17 of 23 (74%) children studied. The mean age of onset of clinical symptoms was 2.7 months. Eczema was the most frequent manifestation present in 16 children, diarrheas and abdominal cramps were noted equally in 3 children, gastroesophageal reflux disease was diagnosed in 2 children as well as vomiting was observed in 2 children. Atopy was revealed in 8 of 17 children (47%) with food allergy.ConclusionsFood allergy is a common health problem coexisting with antibody production defects in infants and young children. Clinical symptoms correlate better with low immunoglobulin levels than with serum IgE, that is not a suitable diagnostic criterion for allergic disease in patients with hypogammaglobulinemia

Comparison of two multiplex PCR assays for the detection of Listeria spp. and Listeria monocytogenes in biological samples

Introduction: The aim of the study was to optimise and compare two multiplex PCR assays for the detection of Listeria spp. and Listeria monocytogenes in biological samples including the liver, brain, and blood. Material and Methods: Three strains of L. monocytogenes and single strains of each of the species: L. ivanovii, L. innocua, L. grayi, L. welshimeri, and L. seeligeri were used. Additionally, five other species of bacterium were used to evaluate the specificity of the tests. Results: Specific amplification products were obtained for both multiplex PCR assays, which confirmed the tested strains as Listeria spp. and L. monocytogenes, respectively. Isolates of other species did not yield PCR products. Conclusion: Both multiplex PCR assays proved to be significantly sensitive and highly-specific methods for the detection of Listeria strains

Hyper IgE syndrome (Job syndrome, HIES) : radiological images of pulmonary complications on the basis of three cases

Background: Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex immune deficiency with multiorgan clinical manifestations and diverse genetic background. The clinical triad of symptoms observed in approximately 75% of patients with HIES includes: recurrent abscesses of staphylococcal etiology, recurrent respiratory infections and elevated immunoglobulin E in serum. Case Report: The paper discusses three cases of female patients presenting typical pulmonary complications of the hyper-Ig E syndrome. In the first case, the development of aspergilloma in a postinflamatory cyst was observed, in the other one, pneumonia with pleural effusion, and as a consequence of inflammatory infiltrations - fibrotic changes, giving rise to lobectomy, while in the last of these cases, the course of lung disease was complicated by formation of staphylococcal abscess. In one of the girls, bronchiectasis appeared at follow-up. Conclusions: Complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Late diagnosis significantly worsens the respiratory function and reduces the chance for normal development of a child. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences. Therefore, the important role is attributed to the radiologist in the multidisciplinary care of patients with this syndrome