Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

Punwani, Divya

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. [electronic resource] - The New England journal of medicine 12 2016 - 2165-2176 p. digital

Publication Type: Case Reports; Journal Article

1533-4406

10.1056/NEJMoa1509164 doi


Abnormalities, Multiple--genetics
Animals
Brain--diagnostic imaging
Cell Movement
Disease Models, Animal
Gene Expression Regulation
Hematopoietic Stem Cell Transplantation
Hematopoietic Stem Cells--metabolism
Humans
In Vitro Techniques
Infant, Newborn
Magnetic Resonance Imaging
Male
Mutation, Missense
Neonatal Screening--methods
Receptors, Antigen, T-Cell
Repressor Proteins--deficiency
Severe Combined Immunodeficiency--genetics
Tumor Suppressor Proteins--deficiency
Zebrafish--growth & development