Ozden Sanal

TL;DR: Along with clinical parameters, chemotaxis and random migration of neutrophils were evaluated in patients with Down's syndrome (DS) and healthy subjects and the pathological status was attributed to these impaired host defense factors besides the existing bacterial plaque.

TL;DR: Characteristics of the patient population, and the determination of differences in disease presentation and unusual features, have led us to undertake studies in collaboration with various centers in Western countries, which have contributed to the identification of the genes responsible for some rare immunodeficiencies.

TL;DR: One of the rarest forms of autosomal recessive chronic granulomatous disease (AR‐CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67phox, a key cytoplasmic protein in the phagocyte NADPH oxidase system.

TL;DR: The molecular characterization of a new MHC class II deficiency patient, ATU, indicated that ATU belongs to complementation group A, and a novel homozygous genomic deletion was the result of the absence of a splice donor site in the CIITA gene of ATU.

TL;DR: Although ERT was insufficient to restore a normal immune function in ADA-SCID patients, it was useful to improve and stabilize the clinical status before curative therapy (aHSCT/HSCGT) and there is a chance to give ERT before the definitive therapy if the patient with SCID/CID has ADA deficiency.