Beyond human leukocyte antigen class i antigens: hereditary hemochromatosis gene mutations in recurrent aphthous oral ulcers and Behcet disease in the South of Tunisia

Objective: The aim of this work was to establish human leukocyte antigen [HLA] class I and hereditary hemochromatosis gene [HFE] mutation associations with recurrent aphthous oral ulcers [RAOU] and Behcet disease [BD] in a cohort of Southern Tunisian patients

Subjects and Methods: A total of 232 patients with RAOU and 123 healthy controls [HCs] were enrolled in this study. The patients were divided into 2 groups based on the presence [BD+: n = 62] or absence of BD [BD - , n = 170]. In the BD+ group, 28 patients had severe manifestations of BD. In the BD- group, RAOU was isolated in 81 patients, associated with mucocutaneous manifestations in 58 and with joint symptoms in 25. Complement-dependent microlymphocytotoxicity assay and polymerase chain reaction-restriction fragment length polymorphism were used to study HLA class I polymorphism and HFE mutations, respectively

Results: HLA-B51 was positively associated with BD, particularly in those with severe manifestations. No association was detected with HLA class I polymorphism among the BD group. Based on stratification to clinical manifestations, the isolated RAOU was negatively associated with HLA-A1 with a difference close to significance [12 [14.81%] vs. 32 [26.02%] in HCs; p = 0.06]. Furthermore, patients with mucocutaneous features had a higher frequency of HLA-B51 [14, 24.14%] than patients without mucocutaneous involvement [11, 11.37%]. Considering HFE mutations, patients with isolated RAOU had a higher frequency of H63D when compared with other subgroups, especially after limiting the comparison to 27 patients of at least 5 years of follow up

Conclusion: This study showed that, unlike BD, RAOU were not associated with HLA-B51. Moreover, we suggest that H63D mutation was positively associated with isolated RAOU

An unusual cause of optic neuritis：rickettsiosis disease

Optic neuritis (ON) may be associated to a range of autoimmune or infectious diseases. We report herein a case of ON induced by Rickettsia conorii. A 53-year-old woman presented with a recent decrease in visual acuity and headache. ON was diagnosed on the basis of ophthalmologic examination and flash visual evoked potentials. Etiological investigation made in our department eliminated first autoimmune disorders (vasculitis and connective tissue diseases). Rickettsial optic neuritis was confirmed by detection of specific antibodies in serum and the negativity of other serologic tests. An association between corticosteroids and cyclines was prescribed with improvement of visual acuity.