BCL11B

[7] Research suggests that BCL11B is crucial for ameloblasts (the cells that produce tooth enamel) to form and work properly.

[13] The symptoms of SCID caused by BCL11B mutation - apart from immunity defects - typically include teeth abnormalities, craniofacial dimorphism, different types of dermatitis.

[14][13] The immunodeficiency has a dominant negative mode of inheritance as all so far described patients with it has been after sequencing identified as heterozygotes in the BCL11B gene.

[13][14] A mouse model based study showed, that Bcl11b also plays an important role in pathogenesis of inflammatory bowel disease.

[9] This article incorporates text from the United States National Library of Medicine, which is in the public domain.