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Table 8 Clinical and Laboratory Features Of Rare Genetic Disorders that can be Confused With A-T (reviewed in [210] and [14])

From: Ataxia telangiectasia: a review

  A-T AOA1 AOA2 ATLD NBS
Human gene ATM APTX SETX MRE11 NBS1
Radiosensitivity (type of DNA damage) Yes
(DSB)
Yes
(SSB)
No
(SSB?)
Yes
(DSB)
Yes
(DSB)
Immune deficiency Yes No No Mild [211] Yes
Neurodegeneration Yes Yes Yes Yes No
Early Neurodevelopment Usually Normal Normal Normal Normal Microcephaly & Cognitive Impairment
Cancer risk Yes No No Unknown Yes
Albumin Normal Low Normal Normal Normal
AFP High Normal High Normal Normal
  1. DSB double strand break, SSB single strand break