IUIS-PID table 3 immunodeficiencies

T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

rare disease

Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents the repair of broken DNA, increasing the risk of cancer.

rare genetic disorder with short strature and predisposition to cancer

autosomal dominant form called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders

rare disease

human disease

metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair

human disease

human disease