Development of type 1 diabetes despite severe hereditary B-cell deficiency

Article Abstract:

B cells and autoantibodies are not necessarily involved in causing type 1 diabetes, according to a study of a boy with a severe B-cell deficiency. B cells make antibodies and they can make autoantibodies that attack the pancreatic cells that produce insulin, which would cause type 1 diabetes. However, this boy developed type 1 diabetes at the age of 14 even though his body produced virtually no B cells.

Health aspects, Case studies, Pediatric diseases, Immunologic deficiency syndromes, Type 1 diabetes, Immunological deficiency syndromes in children

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Early malignant progression of hereditary medullary thyroid cancer

Article Abstract:

Genetic testing may be able to identify which people with a thyroid disease called C-cell hyperplasia may develop thyroid cancer, according to a study of 207 patients with mutations in the RET gene. Those who are at high risk of developing thyroid cancer based on the results of the genetic test could have surgery to remove the thyroid gland before it becomes cancerous.

Prevention, Development and progression, Genetic screening, Genetic testing, Thyroid cancer

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Hereditary periodic fever

Article Abstract:

The genetics, diagnosis, and treatment of hereditary periodic fever are reviewed, focusing on familial Mediterranean fever, hyper-IgD syndrome, and TNF-receptor-associated periodic syndrome. Periodic fever is fever that recurs every few days or weeks and may persist for more than two years.

Analysis, Familial Mediterranean fever, Periodic disease

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