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Autosomal recessive TPPII mutations cause a new human immunodeficiency

ABSTRACT: Autosomal recessive TPPII mutations cause a new human immunodeficiency

PROVIDER: PRJNA269323 | ENA |

REPOSITORIES: ENA

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Autosomal recessive TPP2 mutations cause a new human immunodeficiency

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Project description:We describe four patients from two unrelated families of different ethnicities who had primary immunodeficiency predominantly manifesting as susceptibility to EBV-related diseases. We performed whole exome sequencing (P1 and P2 from family 1) or whole genome sequencing (P4 and both parents from family 2) in those two families and identified homozygous frameshift or in-frame deletions in CD70 in these patients which abolished either CD70 surface expression or binding to its counter structure CD27. Sanger sequencing identified the same homozygous CD70 mutation in P3, which is not included in the dbGaP submission. Autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of CD27 deficiency.

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Project description:Autosomal recessive TPPII mutations cause a new human immunodeficiency

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Genotyping of autosomal recessive type of limb-girdle muscular dystrophies

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