Forms and Documents
- Confirmation of a clinical diagnosis, especially to identify the associated radiosensitivity.
- Selection of appropriate treatment
- Identification of at-risk family members
- Prenatal diagnosis
- Capillary Sequencing
- 279.2 Combined immunity deficiency
- Li L et al., 2002, A founder mutation in Artemis, ans SNM1-like protein, causes SCID in Athabascanspeaking Native Americans, J Immunol 168:6323
- Ege, M. et al., Omenn syndrome due to ARTEMIS mutations. Blood 105: 4179-4186, 2005.
- Moshous, D. et al., Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177-186, 2001.