Search for dissertations about: "Kostmann syndrome"

Found 3 swedish dissertations containing the words Kostmann syndrome.

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

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

    Abstract : 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. READ MORE

  4. 2. Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion

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

    Abstract : 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. READ MORE

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

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

    Abstract : 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. READ MORE