- MeSH
- Chemotherapy, Adjuvant classification MeSH
- Lymphokines pharmacology isolation & purification classification therapeutic use MeSH
- Immunologic Deficiency Syndromes drug therapy classification MeSH
- Transfer Factor * administration & dosage pharmacology classification therapeutic use MeSH
- Publication type
- Review MeSH
- MeSH
- Diagnostic Imaging MeSH
- Diagnosis, Differential MeSH
- Genetic Testing methods MeSH
- Respiratory Tract Infections etiology MeSH
- Clinical Laboratory Techniques methods MeSH
- Humans MeSH
- Neonatal Screening methods MeSH
- Immunologic Deficiency Syndromes * diagnosis classification therapy MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Immunoglobulin G blood MeSH
- Immunoglobulins * administration & dosage therapeutic use MeSH
- Infections drug therapy MeSH
- Injections, Subcutaneous MeSH
- Middle Aged MeSH
- Humans MeSH
- Primary Immunodeficiency Diseases classification MeSH
- Recurrence MeSH
- Immunologic Deficiency Syndromes * diagnosis drug therapy classification blood MeSH
- Treatment Outcome MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
Ataxia teleangiektázia je raritné autozómovo recesívne dedičné ochorenie patriace do samostatnej podskupiny dobre definovaných imunode-ficiencií, označovaných ako imunodeficientné syndrómy spojené s instabilitou chromozómov. Súčasťou klinického obrazu tohto syndrómu je vrodená porucha špecifickej humorálnej i celulárnej imunity, ktorá býva prítomná približne u dvoch tretín pacientov. Cieľom našej práce bolo komplexné retrospektívne zhodnotenie imunitného statusu a klinických charakteristík detských pacientov s diagnózou ataxia teleangiektázia, ktoré boli v období rokov 2003 až 2019 dispenzarizované v Centre pre vrodené poruchy imunity Kliniky detí a dorastu Univerzitnej nemocnice v Martine a Jesseniovej lekárskej fakulty Univerzity Komenského. Sledovaný súbor tvorilo celkovo 7 detí (4 chlapci a 3 dievčatá), pričom vo všetkých prípadoch bola verifikovaná variabilná kombinovaná imunodeficiencia rôzneho stupňa a charakteru manifestujúca sa od rekurentných nekomplikovaných respiračných infekcií až po purulentnú meningoencefalitídu a onkologické ochorenie v podobe adenokarcinómu žalúdka. Výsledky nášho klinického pozorovania potvrdzujú existujúce poznatky o prítomnosti a charaktere imunodeficiencie u pacientov s ataxiou teleangiektáziou a sú konzistentné so závermi iných autorov.
Ataxia telangiectasia is a rare autosomal recessive disease belonging to the specific subgroup of well-defined syndromes with immunodeficiency, reffered to as chromosomal instability immunodeficiency syndromes. In approximately two thirds of patients with this syndrome, clinical picture includes innate defects of specific humoral and cellular immunity. The aim of our retrospective study has been to comprehensively evaluate the immune status and clinical characteristics of pediatric patients diagnosed with ataxia teleangiectasia, who were followed up for the period from 2003 to 2019 in the Centre for Primary Immunodeficiencies of Department of Pediatrics, University Hospital in Martin, Jessenius Faculty of Medicine of Commenius University in Bratislava. The study group consisted of 7 children (4 boys and 3 girls) with verified variable combined immunodeficiency of different degrees and nature in all cases, ranging from recurrent uncomplicated respiratory infections to purulent meningo-encephalitis and malignant disease in the form of gastric adenocarcinoma. The results of our clinical observations confirm existing knowledge on the presence and nature of immunodeficiency in ataxia telangiectasia patients and are consistent with the conclusions reached by other authors.
- MeSH
- Chediak-Higashi Syndrome physiopathology therapy MeSH
- Child MeSH
- Humans MeSH
- Immune System Diseases * epidemiology physiopathology congenital MeSH
- Neurologic Manifestations * MeSH
- Nijmegen Breakage Syndrome physiopathology MeSH
- Immunologic Deficiency Syndromes etiology classification physiopathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
Imunitný systém patrí k základným mechanizmom organizmu udržiavajúcim rovnováhu. Protilátkové imunodeficiencie sú poruchy, vyplývajú z absencie alebo nedostatočnej funkcie jednej alebo viacerých zložiek imunitného systému. V súčasnosti sa viac preferuje subkutánne podávanie imunoglobulínov, pretože pacientovi zvyšujú kvalitu života, vzhľadom na aplikáciu v domácom prostredí. Pacientove obmedzenia sú v porovnaní s intravenóznou aplikáciou menšie. Subkutánne podávanie liečivých prípravkov predstavuje menej častý, ale veľmi významný parenterálny spôsob podávania liečivých látok do podkožného tkaniva.
The immune system is one of the basic mechanisms of the organism that maintains balance. Immunodeficiency conditions are disorders of any component of immune defence, resulting from the absence or insufficiency of function of one or more components of the immune system. At present, subcutaneous administration of immunoglobulins is preferred because it improves the quality of life of the patient due to being applied in the home. The limitations on the patient are fewer than in comparison with intravenous administration. Subcutaneous administration of drug preparations is a less frequent, but very important, parenteral route for administration of medicinal substances to the subcutaneous tissue.
- MeSH
- Injections, Subcutaneous methods nursing utilization MeSH
- Immunoglobulins, Intravenous administration & dosage MeSH
- Immune System Diseases MeSH
- Nursing Care standards MeSH
- Reference Standards MeSH
- Immunologic Deficiency Syndromes diagnosis classification complications therapy MeSH
- Nurses MeSH
- Drug Administration Routes MeSH
- MeSH
- Phagocytes immunology pathology MeSH
- Humans MeSH
- Lymphocytes immunology pathology MeSH
- Primary Immunodeficiency Diseases classification pathology MeSH
- Immunologic Deficiency Syndromes * classification pathology MeSH
- Antibody Formation immunology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
