Sökning: "severe congenital neutropenia"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden severe congenital neutropenia.

1. 1. Kostmann syndrome : a clinical and pathophysiological study

   Författare :Göran Carlsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Kostmann syndrome; severe congenital neutropenia; autosomal recessive; periodontitis; antibacterial peptides; LL-3 7; apoptosis; Bcl-2; granulocyte colony-stimulating factor; glycosylation; lenograstim; filgrastim.;

   Sammanfattning : Kostmann syndrome or severe congenital neutropenia (SCN) is a rare disease, usually diagnosed during the first months of life, characterized by extremely low levels of neutrophils in the peripheral blood, a maturational arrest of the myelopoiesis in the bone marrow and severe bacterial infections. The purpose of this project was to improve the understanding of the clinical course and the pathophysiology of autosomal recessive SCN. LÄS MER

3. 2. Oral mucositis and periodontal disease in patients with primary or acquired immunodeficiencies

   Författare :Ying Ye; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The infection and inflammation in the oral cavity are commonly related to the skewed interaction between host immunity and inhabiting microorganisms. Both primary and acquired immunodeficiency conditions are frequently associated with oral symptoms. LÄS MER

4. 3. Identification of Candidate Genes in Four Human Disorders

   Författare :Malin Melin; Niklas Dahl; Anders Isaksson; Juha Kere; Uppsala universitet; []
   Nyckelord :Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

   Sammanfattning : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. LÄS MER

5. 4. Regulation and characterization of antimicrobial peptides in man and mice

   Författare :Jenny Karlsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The gene-encoded antimicrobial peptides have emerged as an important component of innate immunity. In mammals, antimicrobial peptides are either directly secreted from cells or found in cell granules, which can be released after stimuli. LÄS MER

7. 5. Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion

   Författare :Miriam Entesarian; Niklas Dahl; Niels Tommerup; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : In summary, this thesis presents the localisation and identification of genetic variants of which some are disease associated and some considered to be neutral. Knowledge of the basic mechanisms behind human disorders is important both from a biological and medical point of view. LÄS MER