BILU syndrome

Definition:

BILU (B-cell immunodeficiency, distal limb anomalies, and urogenital malformations) syndrome is a novel multiple congenital anomalies syndrome that include both skeletal dysplasia and immune deficiency. It has been reported that autosomal dominant mutations in TOP2B cause BILU syndrome. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription.

References:

[1]. Lori Broderick, et al. Mutations in topoisomerase IIβ result in a B cell immunodeficiency. Nat Commun. 2019 Aug 13;10(1):3644. [Content Brief]

[2]. P Edery, et al. B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?. J Med Genet. 2001 Jul;38(7):488-93. [Content Brief]

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