A Cohort Study of Demographic data, Clinical Manifestations, Laboratory data, and Genetic Spectrum of Ataxia Telangiectasia in Iran
Ataxia Telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive neurological impairments, cerebellar ataxia, immunodeficiency, increased susceptibility to sinopulmonary infections, growth retardation, sensitivity to ionizing radiation, ocular and cutaneous telangiectasia, and a predisposition to various malignancies
Investigating the rate of infection leading to hospitalization in patients with Chronic Granulomatous Disease (CGD) treated with and without interferon gamma (IFN-γ)
Chronic Granulomatous Disease (CGD) is a primary immunodeficiency that typically manifests within the first months or years of life.
Diagnosis of Patients with Hyper IgM syndrome with CD40LG mutation by Flow cytometry Method and Evaluation of Phenotypes and Genotypes Correlation in the Patients
Hyper IgM Syndrome (HIGM) is a primary immunodeficiency disorder characterized by symptoms such as recurrent respiratory infections, opportunistic infections, and autoimmune disorders.
Evaluating Expression of WASp in X-linked SCN in Comparison with WAS
Wiskott-Aldrich Syndrome (WAS) and X-Linked Severe Congenital Neutropenia (XLN) are rare X-linked immunodeficiency disorders characterized by variable clinical phenotypes.
