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Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference.

Necil KutukculerEzgi TopyildizAfig BerdeliBurcu GuvenAyça AykutAsude Alpman DurmazOzgur CoguluGuzide AksuNeslihan Edeer Karaca
Published in: Clinical case reports (2021)
We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long-term clinical and genetical experiences. Some CVID patients have the same disease-causing mutations in PLCG2 gene, so it may be better to define all of them as "PLCG2deficiency."
Keyphrases
  • end stage renal disease
  • ejection fraction
  • copy number
  • genome wide
  • chronic kidney disease
  • newly diagnosed
  • mental health
  • prognostic factors
  • patient reported outcomes
  • transcription factor
  • genome wide analysis