Browsing by Author "Karal, Zuhal"

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    Chediak-higashi syndrome
    (Galenos Yayıncılık, 2007-12-01) Karal, Zuhal; Kılıç, Sara Şebnem; Karal, Zuhal; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı; 0000-0001-8571-2581; AAH-1658-2021; CXZ-8650-2022
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that affects multiple systems of the body. Mutations have been found in the CHS1 gene. This disorder characterized by hypopigmentation of the skin and hair; prolonged bleeding time; immunodeficiency; recurrent infections; neurologic abnormalites. Abnormally large granules are seen in peripheral leukocytes and many other cell types.Stem cell transplantation has been found successfull in some patients. Patients die usually from pyogenic infection, hemorrhage or complications of the accelerated phase.
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    Selective iga deficiency and common variable immunodeficiency
    (Galenos Yayincilik, 2009-09-01) KILIÇ GÜLTEKİN, SARA ŞEBNEM; Karal, Zuhal; Kamber, Kadri; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı; 0000-0001-8571-2581; AAH-1658-2021
    Selective IgA deficiency (sIgAD), using 5 mg/dl of serum IgA as the upper limit for diagnosis and concomitant lack of secretory IgA, is the most common form of primary immunodeficiency. The pathogenesis of IgA deficiency is not known, although abnormalities in Ig class switching and the cytokines involved in isotype switching have been implicated. Common Variable Immunodeficiency (CVID) is a heterogenous group of B cell deficiency syndromes characterized by hypogammaglobulinemia, impaired antibody production and recurrent bacterial infections. Defective T-cell activation may lead to an impairment in cognate T-Bcell interaction due to impaired expression of CD40 ligand and/or abnormalities in the production of T-cell-derived cytokines required for fully functional B-cell activation, proliferation and/or differentiation which could indeed explain the impairment in antibody production present in CVID patients. It has been found that cytokines are produced in low levels due to the decreased T cell function which occurs as a result of the defect in CD40L expression in CVID patients.