Combined immunodeficiency due to CD70 deficiency

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Combined immunodeficiency due to CD70 deficiency

Synonyms: CID 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Combined immunodeficiency due to CD70 deficiency?

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Clinical Trials

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