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Condition report · Immunological

EBV Lymphoproliferation and CARD11 Disorders

Rare inherited immune conditions in which the immune system cannot properly control Epstein-Barr virus (EBV) infection or regulate the growth of immune cells. This can lead to enlarged lymph nodes and spleen, and an increased risk of severe EBV disease and lymphoma.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

CD27 deficiency

Autosomal recessive

Caused by changes in CD27, it leads to persistent EBV infection, overgrowth of lymphocytes and a risk of lymphoma and hemophagocytic lymphohistiocytosis.

What a diagnosis changes

Monitoring for EBV and lymphoma allows early treatment, and a stem cell transplant may be considered.

Genes analysed

Also known as

CD27 lymphoproliferative syndrome; CD27-related lymphoproliferative and immune disorder; LPFS2; lymphoproliferative syndrome caused by mutation in CD27

MONDO:0014054OMIM 615122Orphanet 238505MedGen 767454

B-cell expansion with NF-kB and T-cell anergy (BENTA)

Autosomal dominant

Caused by gain-of-function changes in CARD11, it leads to an expansion of B cells, enlarged spleen and lymph nodes, and recurrent infections.

What a diagnosis changes

Recognition allows monitoring for infections and for progression to lymphoma.

Genes analysed

Also known as

B-cell expansion with NF-kB and T-cell anergy disease; B-cell expansion with NFKB and T-cell anergy; BENTA

MONDO:0014645OMIM 616452Orphanet 464336MedGen 1641265

IKZF2-related immune dysregulation

Autosomal dominant

Caused by changes in IKZF2 (Helios), it leads to variable immune deficiency, autoimmunity and lymphoproliferation.

What a diagnosis changes

Recognition guides monitoring for infections, autoimmunity and EBV-related complications.

Genes analysed

MONDO:0979233OMIM 621233MedGen 1876466

Other immunological conditions

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