Dianzani Autoimmune Lymphoproliferative Disease

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

SPP1, APCS, IL17A, SH2D1A, TIMP1, IL17F, UNC13D

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.

Epidemiology

The prevalence of DALD is not known. The disorder has been reported in fewer than 30 patients to date.

Clinical description

Age of onset is highly variable, ranging from childhood to young adulthood. In patients with DALD, signs of autoimmunity include recurrent episodes of thrombocytopenia, neutropenia, and/or autoimmune hemolytic anemia. Lymphoadenopathy and/or splenomegaly are invariably noted. A possible increased risk of cancer has been suggested in these patients.

Etiology

The cause of DALD is not known but it is thought to be hereditary.

Diagnostic methods

Biologically, DALD is characterized by normal double-negative T-cells (DNTs) and defective in vitro FAS-mediated apoptosis.

Genetic counseling

The pattern of inheritance of DALD is not known.