نتایج جستجو برای: antibody deficiency syndrome
تعداد نتایج: 889912 فیلتر نتایج به سال:
Ketogenic diet (KD) was usually tried as a last resort in the treatment of intractable epilepsy after failure of many antiepileptics and even epilepsy surgery. Glucose transporter-1 deficiency and pyruvate dehydrogenase deficiency must be treated with KD as the first choice because of inborn errors of glucose metabolism. Infantile spasms, tuberous sclerosis complex, Rett syndrome, Doose syndrom...
Prasad's syndrome is characterized by geophagia, growth retardation, hypogonadism, and zinc deficiency. We report a 15-year-old boy whose medical history and clinical and laboratory findings were fully compatible with Prasad's syndrome. In addition to severe growth retardation and pubertal delay, iron deficiency anemia and zinc deficiency were determined. His gliadin and endomysium antibodies w...
BACKGROUND A subset of patients with chronic rhinosinusitis (CRS) has refractory disease. The risk factors for refractory CRS include atopy, a disrupted mucociliary transport system, medical conditions affecting the sinonasal tract mucosa, and immunodeficiency. METHODS We review four primary immunodeficiencies reported in individuals with CRS: common variable immune deficiency (CVID), selecti...
Abstract Background Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations. Short stature delayed puberty are present in most cases may be combined extra malformations. Magnetic resonance imaging considered the key factor for reaching definite diagnosis as it reveals different radiological presentations of t...
The new variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has once again sounded the alarm on healthcare systems worldwide and caused concern in some countries. This been identified South Africa initially called B.1.1.529 later renamed Omicron by WHO. transmissibility immune evasion (B.1.1.529) is higher than previous variants. Compared to dominant variant, which was Delta...
BACKGROUND Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic ...
B-cell survival depends on signals induced by B-cell activating factor (BAFF) binding to its receptor (BAFF-R). In mice, mutations in BAFF or BAFF-R cause B-cell lymphopenia and antibody deficiency. Analyzing BAFF-R expression and BAFF-binding to B cells in common variable immunodeficiency (CVID) patients, we identified two siblings carrying a homozygous deletion in the BAFF-R gene. Removing mo...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید