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Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience.

Oded ShamrizAmos J SimonShirley FrizinskyAtar LevOrli MeggedOrtal BarelNufar MarcusYuval TalRaz SomechOri Toker
Published in: European journal of pediatrics (2022)
• Genetic workup can be utilized for prompt diagnosis of complement deficiencies. • High rates of consanguinity, even in the presence of a single meningococcal infection, should promote immune and genetic workups.
Keyphrases
  • genome wide
  • copy number
  • cross sectional