Hsu, Amy P

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