KEGG DISEASE: BILU syndrome

KEGG

DISEASE: BILU syndrome

Entry

H02574                      Disease

Name

BILU syndrome

Description

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.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02574  BILU syndrome

Gene

TOP2B [HSA:7155] [KO:K03164]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hugle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM

Title

Mutations in topoisomerase IIbeta result in a B cell immunodeficiency.

Journal

Nat Commun 10:3644 (2019)
DOI:10.1038/s41467-019-11570-6

Reference

Authors

Edery P, Le Deist F, Briard ML, Debre M, Munnich A, Griscelli C, Fischer A, Lyonnet S

Title

B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

Journal

J Med Genet 38:488-93 (2001)
DOI:10.1136/jmg.38.7.488

LinkDB

» Japanese version

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