Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. [electronic resource]
Producer: 20080725Description: 75-80 p. digitalISSN:- 1365-2249
- B-Lymphocytes -- immunology
- DNA Helicases -- genetics
- DNA-Binding Proteins -- genetics
- Disease Progression
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn
- Killer Cells, Natural -- immunology
- Male
- Mutation
- Severe Combined Immunodeficiency -- genetics
- Syndrome
- T-Lymphocytes -- immunology
- Thymus Gland -- abnormalities
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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