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B-cell immunodeficiency, distal limb anomalies, and urogenital malformations(BILU)

MedGen UID:
332208
•Concept ID:
C1836437
•
Disease or Syndrome
Synonyms: BILU SYNDROME; HOFFMAN SYNDROME
SNOMED CT: BILU (B-cell immunodeficiency, limb, urogenital) syndrome (1230295000); B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (1230295000)
 
Gene (location): TOP2B (3p24.2)
 
Monarch Initiative: MONDO:0012243
OMIM®: 609296

Definition

BILU syndrome is an autosomal dominant complex disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations (summary by Hugle et al., 2011). [from OMIM]

Recent clinical studies

Clinical prediction guides

Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.
Tischkowitz M, Goodman F, Koliou M, Webster D, Edery P, Jones A, Wilson LC
Clin Genet 2004 Dec;66(6):550-5. doi: 10.1111/j.1399-0004.2004.00349.x. PMID: 15521984

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