Immunodeficiency associated with DNA repair defects [DS:H00094] Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725]
Description
Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder mutation in the NBN gene, the disease is encountered most frequently among Slavic populations. Recently, a disease due to RAD50 deficiency has been reported. The patient displayed symptoms similar to NBS, microcephaly, mental retardation, bird-like face, and short stature. The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks.
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
H01344 Nijmegen breakage syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H01344 Nijmegen breakage syndrome
