Immunodeficiency associated with DNA repair defects [DS:H00094] Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725] Defects in RecQ helicases [DS:H00296] Microcephaly, growth restriction, and increased sister chromatid exchange [DS:H02492]
Description
Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by severe growth deficiency, an erythematous and photosensitive facial rash, dysmorphic features such as microcephaly and malar hypoplasia, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed.
Category
Congenital malformation
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
H01346 Bloom syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H01346 Bloom syndrome
