A 39-year-old woman complained of recurrent pustular eruption of her upper extremities and chronic allergic rhinitis. Immunological evaluation demonstrated the following: IgG levels were slightly decreased, but IgG subclass levels were all normal. The patient had detectable/robust responses to 6/14 pneumococcal serotypes (Table ). Further work-up yielded a low level of MBL at < 50 ng/ml (reference: >100 ng/ml), as well as an impaired MBL pathway functional test using the C4b deposition assay. Genotyping showed the HYPD/HYPD variant of MBL2 and wild-type MASP-2 genotype (A/A) (Table ).
A 48-year-old woman presented with painful orogenital ulcerations. She had a family history of documented Behcet's disease (BD) in her father and brother and she was concerned she may have the disease. She was uncertain as to whether she was of Melungeon descent (peoples of Tri-racial descent who have lived in the South-Eastern United States: these include European, African/Middle Eastern/Turkish and Native American). Pertinent other history included severe polyarthralgia (hands, wrists, arms, knees, and ankles) over the past 8 years.\nA pathergy test was negative. Immunoglobulin levels, ESR, and CRP were unremarkable. Assays for hepatitis viruses, HIV, rheumatoid factor, Herpes simplex, and lupus anticoagulant were negative (Table ). Ophthalmologic evaluation did not demonstrate the characteristic uveitis. She was treated with a pulse of oral glucocorticoids and placed on long term hydroxychloroquin. After 5 months, oral and genital ulcerations had resolved. Due to the clinical response to therapy but insufficient diagnostic criteria, she was diagnosed with a forme fruste of BD. Further work-up established an MBL level < 50 ng/ml and a deficient MBL functional pathway (Table ). Genotyping revealed an LXPA/LYPB haplotype for MBL and A/A for MASP-2 (Table ).