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Combined immunodeficiency due to CD70 deficiency

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Disease definition

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.


Classification level: Disorder

  • CID due to CD70 deficiency

Prevalence: <1 / 1 000 000

Inheritance: -

Age of onset: Childhood, Infancy

ICD-10: D82.3

OMIM: 618261

UMLS: C5568559

A summary on this disease is available in Français (2020) Español (2020) Deutsch (2020) Nederlands (2020)
Detailed information
Clinical practice guidelines

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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