Clinical heterogeneity in families with multiple cases of inborn errors of immunity
The importance of implementing genetic evaluation in all members of a family with a history of Inborn errors of immunity (IEI).
Genetic evaluation could be considered as a factor to improve quality of life and survival of patients.
The highest discordance in familial lymphoproliferation, autoimmunity and malignancy were respectively observed in STK4 deficiency, DNMT3B deficiency and ATM deficiency.
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