Recurrent fevers in the presence of multiple autoimmune diseases and antibody deficiency

Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin

“…The G20210A prothrombin-mutation has not been reported together with IgG deficiency, but repeatedly together with vasculitis, most frequently in Behcet's vasculitis 14 but also together with cutaneous livedoid vasculitis 15 . In single cases IgG deficiency was related to vasculitis 16,17 . An argument against a common cause of the described abnormalities is that Down syndrome is usually due to trisomy of chromosome 21 and that the genes for MBL, prothrombin, and IgG are located all on chromosomes other than chromosome 21.…”

“…Low IgG due to MBL-deficiency was excluded, since such a causal relation has rarely been reported and since also subclass IgG2 was reduced. Though vasculitis was also rarely related to MBL-deficiency 12,13 or IgGdeficiency 16,17 , it cannot be definitively excluded that immunodeficiency contributed to the development of the dermal abnormalities, since cutaneous vasculitis has been previously reported in a patient with Down syndrome 5 and since patients carrying MBL-haplotypes are at risk of developing systemic lupus erythe-mtosus 20 . Whether deep venous thrombosis and pulmonary embolism were due to the prothrombin mutation or the oral contraceptives, or both, remains speculative.…”