Condition: IMMUNODEFICIENCY 49
rs750610248
in
BCL11B
gene and
IMMUNODEFICIENCY 49
PMID 27959755
2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
PMID 29985992
2018 BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.