A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.

Synonyms:

Louis-Bar syndrome

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
hasDbXref
  • MedDRA:10003594
  • UMLS:C0004135
  • OMIM:208910
  • OMIM:208900
  • MeSH:D001260
  • ICD-10:G11.3
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
  • http://www.orpha.net/ORDO/Orphanet_409945
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
  • http://www.orpha.net/ORDO/Orphanet_409975
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence average value
  • 1.19
  • 0.15
  • 0.49
  • 0.4
  • 0.25
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
  • http://www.orpha.net/ORDO/Orphanet_409976
notation
  • ORPHA:100
part of
  • http://www.orpha.net/ORDO/Orphanet_79379
  • http://www.orpha.net/ORDO/Orphanet_98097
  • http://www.orpha.net/ORDO/Orphanet_611314
  • http://www.orpha.net/ORDO/Orphanet_252190
  • http://www.orpha.net/ORDO/Orphanet_183478
  • http://www.orpha.net/ORDO/Orphanet_522506
  • http://www.orpha.net/ORDO/Orphanet_98683
  • http://www.orpha.net/ORDO/Orphanet_183422
  • http://www.orpha.net/ORDO/Orphanet_169346
  • http://www.orpha.net/ORDO/Orphanet_519341
  • http://www.orpha.net/ORDO/Orphanet_139027
  • http://www.orpha.net/ORDO/Orphanet_95710
  • http://www.orpha.net/ORDO/Orphanet_522520
  • http://www.orpha.net/ORDO/Orphanet_485382
present in
  • http://www.orpha.net/ORDO/Orphanet_410100
  • http://www.orpha.net/ORDO/Orphanet_410224
  • http://www.orpha.net/ORDO/Orphanet_410169
  • http://www.orpha.net/ORDO/Orphanet_410157
  • http://www.orpha.net/ORDO/Orphanet_410225
  • http://www.orpha.net/ORDO/Orphanet_409984
  • http://www.orpha.net/ORDO/Orphanet_410066