LIGHD describes the second patient with BCL10 deficiency

Our laboratory reported in 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a private BCL10 allele to have complete inherited human BCL10 deficiency.

In the present study, we report the second CID patient with BCL10 mutation who was homozygous for a BCL10 variant (R88X), previously reported as a rare allele in heterozygosis (minor allele frequency, 0.000003986).