In:
The Journal of Immunology, The American Association of Immunologists, Vol. 190, No. 1_Supplement ( 2013-05-01), p. 51.13-51.13
Abstract:
Autoimmune thrombotic thrombocytopenic purpura (aTTP) is a rare disease characterized by thrombocytopenia, microangiopathic hemolytic anemia and a variable degree of endorgan ischemia as well as an often relapsing course. Underlying is a severe ADAMTS13 deficiency due to inhibitory autoantibodies preventing normal processing of sticky, unusually large Von Willebrand factor multimers, to which platelets bind spontaneously. Acute episodes of aTTP typically occur in young women between 20-40 years of age and are rarely seen in children. Strikingly, over the last 7 years we observed aTTP with severe acquired ADAMTS13 deficiency in 5 children (aged 1-11 years) of Polynesian origin. The first 3 cases have hypogammaglobulinaemia requiring regular intravenous immunoglobulin (IVIG) infusions. At least 4 of the 5 cases have additional signs and symptoms indicative of a common variable immune deficiency syndrome (CVID), which in two cases (siblings) may have been demasked by rituximab used to treat their relapsing aTTP. Conclusions: Although cytopenias (mainly idiopathic thrombocytopenia, or Evans’ syndrome, both differential diagnosis of aTTP) and various autoimmune diseases have been reported in CVID the association with aTTP is novel (or underreported). Together with the common Polynesian ethnicity of the 5 cases and the unusual early aTTP onset this hints at new CVID underlying mechanisms. Further diagnostics and a search for mutual underlying defects are warranted.
Type of Medium:
Online Resource
ISSN:
0022-1767
,
1550-6606
DOI:
10.4049/jimmunol.190.Supp.51.13
Language:
English
Publisher:
The American Association of Immunologists
Publication Date:
2013
detail.hit.zdb_id:
1475085-5
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