IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype. [electronic resource]
- Journal of clinical immunology Jul 2015
- 449-53 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
1573-2592
10.1007/s10875-015-0174-0 doi
Adult Antigens, CD19--metabolism B-Lymphocytes--physiology Bronchiectasis--diagnosis CD4-Positive T-Lymphocytes--physiology CD8-Positive T-Lymphocytes--physiology Delayed Diagnosis Humans Infant, Newborn Infections--diagnosis Interleukin Receptor Common gamma Subunit--genetics Lymphoid Progenitor Cells--physiology Male Mutation--genetics Pedigree Phenotype Severe Combined Immunodeficiency--diagnosis Signal Transduction--genetics Skin--pathology Young Adult