Téma: Review papers

Primary immune system disorders in childhood – part 6: other, well defined immunodeficiency syndromes – syndromes with chromosomal instability

Miloš Jeseňák, Zuzana Rennerová, Zuzana Vojtušová, Ivana Plameňová, Peter Bánovčin

Part 6: Other, well defined immunodeficiency syndromes – syndromes with chromosomal instability Other, well defined immunodeficiency syndromes present a group of inherited defects of immunity, which was established on the basis of revised classification of Europe Society for Immunodeficiencies. Recently, all this disorders were involved in the classical groups of defects of specific and non-specific, cellular or antibody immunity. For this disorders is, besides the present immunodeficiency, characteristic an association of various clinical and laboratory symptoms creating particular clinical syndromes. One special part of this diseases is presented by the syndromes associated with chromosomal instability caused by the defects in the repair processes of the nuclear DNA. Besides other typical symptoms, there is also increased radiosensitivity and high incidence of tumours. Therapy is complex and multidisciplinar and the prognosis of the patients depends not only on the degree of immunodeficiency but also on the other concomitant defects. It is also necessary to minimize the exposure to radiation.
ey words: chromosomal instability, immunodeficiency, complex clinical manifestation, syndrome

Ročník 2010  Témy časopisu Paediatrics 6 / 2010

EDITOR IN CHIEF
prof. Peter Banovcin, MD., Ph.D.: Senior specialist of the Ministry of Health in the Slovak Republic for Pediatrics; Head of Department of Pediatrics, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Head of Center of Excellence for Experimental and Clinical Research in Respirology; Martin Slovakia

VICE EDITOR IN CHIEF
assoc. prof. Milos Jesenak, MD., MSc., Ph.D., MBA, Dott.Ric., MHA: Head of Center for diagnosis and treatment of primary immunodeficiencies, Department of Pediatrics, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia

SCIENTIFIC EDITORS
assoc. prof. Mario Barreto, MD., PhD: Department of Pediatrics, 2nd Faculty of Medicine, University La Sapienza, St. Andrew’s Hospital, Rome; Italy
assoc. prof. Vladimir Bzduch, MD., Ph.D.: Department of Pediatrics, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University Bratislava; Slovakia
dr. n. med. Joachim Buchvald, Ph.D.: Head of Department of Pediatric Pulmonology and Cystic Fibrosis; Rabka-Zdroj, Poland
assoc. prof. Miriam Ciljakova, MD., Ph.D.: Head of Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia
assoc. prof. Milan Dragula, MD., Ph.D.: Head of Department of Pediatric Surgery, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia
ass. prof. Peter Durdik, MD., Ph.D.: Head of Division of Pediatric Pulmonology, Department Pediatrics, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia
assoc. prof. Katarina Furkova, MD., Ph.D.: Head of the Department of Pediatrics, Vice-dean of Faculty of Medicine of Slovak Medical University; Bratislava, Slovakia
prof. dr. med. Janusz Haluszka, MD., Ph.D.: Head of Institute of Public Health, Medical College, Jagellonian University; Krakow, Poland
ass. prof. Zuzana Havlicekova, MD., Ph.D.: Head of Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics of Jessenius Faculty of Medicine of Comenius University in Bratislava; University Hospital Martin; Martin, Slovakia
Marian Hrebik, MD., Ph.D., MPH: Head of Pediatric Cardiology Center, Comenius University in Bratislava; Bratislava, Slovakia
prof. Hana Hrstkova, MD., Ph.D.: Department of Pediatrics, University Teaching Hospital in Brno, University of Masaryk in Brno; Brno, Czech republic
prof. Henrieta Hudeckova, MD., Ph.D.: Senior specialist of the Ministry of Health in the Slovak Republic for Epidemiology, Head of Department of Public Health, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia
assoc. prof. Lubica Jakusova, MD., Ph.D.: Department of Pediatrics, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia
assoc. prof. Emilia Kaiserova, MD., Ph.D.: Head of Department of Pediatric Hematology and Oncology, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University Bratislava; Slovakia
assoc. prof. Ludmila Kostalova, MD., Ph.D.: Department of Pediatrics, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University Bratislava; Slovakia
prof. Karol Kralinsky, MD., Ph.D.: Head of Department of Pediatrics, Head of Department of Pediatric Intensive Care, Children Teaching Hospital in Banska Bystrica, Slovak Medical University; Banska Bystrica, Slovakia
prof. Zuzana Kristufkova, MD., Ph.D., MPH: Head of Department of Public Health, Vice-dean of Faculty of Medicine of Slovak Medical University; Bratislava, Slovakia
assoc. prof. Milan Kuchta, MD., Ph.D.: President of Slovak Pediatric Society, Department of Pediatrics, Children Teaching Hospital in Kosice, University of Pavol Jozef Safarik; Kosice, Slovakia
prof. Jozef Masura, MD., Ph.D., FSCAI: Head of Interventional and Diagnostic Pediatric Cardiology, National Institute for Heart and Vascular Diseases, Pediatric Cardiology Center, Comenius University in Bratislava; Bratislava, Slovakia
prof. Vladimír Mihal, MD., Ph.D.: Head of Department of Pediatrics, Faculty Teaching Hospital in Olomouc, University of Palacky; Olomouc, Czech Republic
assoc. prof. Slavomir Nosal, MD., Ph.D.: Head of Department of Pediatric Intensive Care Unit, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia
prof. MUDr. Petr Pohunek, CSc.: Head of Department of Pediatric Pulmonology, Department of Pediatrics, 2nd Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic
Elena Prokopova, MD.: Senior specialist of the Ministry of Health in the Slovak Republic for Pediatric Primary Care, Out-patient clinic for children and adolescent; Bratislava, Slovakia
prof. Roman Prymula, MD., Ph.D.: Department of Epidemiology, University of Defense; Hradec Kralove, Czech Republic
ass. prof. Zuzana Rennerova Bohmerova, MD., Ph.D.: Department of Pediatric Pulmonology, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University in Bratislava; Slovakia
prof. Tibor Sagat, MD., Ph.D.: Department of Pediatric Intensive Care Unit, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University in Bratislava; Bratislava, Slovakia
prof. Miroslav Sasinka, MD., DSc.: Department of Pediatrics, Faculty of Medicine of Slovak Medical University; Bratislava, Slovakia
Marta Spanikova, MD.: President of Slovak Society of Primary Pediatric Care, Out-patient clinic for children and adolescent; Bratislava, Slovakia
assoc. prof. Veronika Vargova, MD., Ph.D.: Department of Pediatrics, Children Teaching Hospital in Kosice, University of Pavol Jozef Safarik; Kosice, Slovakia
prof. Maria Pia Villa, MD., Ph.D.: Head of Department of Pediatrics, 2nd Faculty of Medicine, University La Sapienza, St. Andrew’s Hospital, Rome; Italy
prof. Mirko Zibolen, MD., Ph.D.: Senior specialist of the Ministry of Health in the Slovak Republic for Neonatology; Head of Department of Neonatology, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia

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Pediatria (Bratislava)
ISSN 1336-863X

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Book:
BRISCOE M.H., CLARK T.J., SIMONCELI G.H., DEVILD P.S. Preparing scientific illustrations? A guide to better posters, presentations and publications. 2nd Ed. New York: Springer-Verlag, 1996, 217 pp.
KOLLMANOVÁ S., BUBENÍKOVÁ L. Atlas medicínskych ilustrácii. 5. vyd. Martin: Osveta, 2001, 205 s.
Book chapter:
OSBORNE B.E. The electrocardiogram of the rat. In: BUDDEN R.,DETWEIERD K., ZBINDEN G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Thorax, 53, 1981, p. 15-27.
Journal articles:
BURNARD, P. Writing for publication: a guide for those who must. Nurse Educ Today, 17, 1999, p. 208-212.
ČERVEŇOVÁ, O., POLÁK, V., VICIANOVÁ, K. Sríning a liečebné postupy anomálii uropoetického systému v novorodeneckom veku. Pediatria (Bratisl.), 48, 1993, s. 233-236.
Web sources:
CARROLL, L. Exploring genes and genetic disorders [online]. Nov. 2004 [cit. 2005-02-10]. Available:[http://www.germany.eu.net/books/alice/html].

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