Combined immunodeficiency due to CD70 deficiency

What is Combined immunodeficiency due to CD70 deficiency?

A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.

Other condition names

  • CID due to CD70 deficiency


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
  • Infancy
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