IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype. [electronic resource]
Producer: 20160627Description: 449-53 p. digitalISSN:- 1573-2592
- 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
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
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