Oral HPV infection and MHC class II deficiency (A study of two cases with atypical outcome)

Here we report two cases with a late outcome MHC class II deficiency. They had a long term history of recurrent bronchopulmonary and gastrointestinal infections. Bone marrow transplantation could not be performed because no compatible donor had been identified. At the age of 12 years, they developed oral papillomatous lesions related to HPV (human papillomavirus). The diagnosis of HPV infection was done by histological examination. HPV typing performed on the tissue obtained at biopsy showed HPV type 6. The lesions were partially removed after two months of laser treatment.Viral infections are common in patients with MHC class II and remain the main cause of death. Besides warts caused by HPV infection do not exhibit a propensity for malignant transformation; they can cause great psychosocial morbidity.A 22-year-old girl, born from unrelated healthy parents of Tunisian origin, during the neonatal period had received BCG immunization without any local or systemic responses. From 6 months of age she had recurrent episodes of bronchopulmonary and gastrointestinal infections. At 10 years, she was referred to our hospital for the first time. On physical examination, she was growth retarded with a weight of 20 kg (-2.2SD) and height of 121 cm (-2SD). Tuberculin skin test was negative. Immunologic examination revealed decreased serum IgG levels: 5 g/l (5.6-16.1), low serum IgA: 0.4 g/l (0.5-2.5), and serum IgM levels within the normal range of age: 0.8 g/l (0.5-1.8). Lymphocyte subsets produced the following: CD3 = 2 × 109cells/L (1.2-2.6), CD4 = 1 × 109cells/L (0.65-1.5), CD8 = 1 × 109cells/L (0.37-1.1), CD19 = 0.374 × 109cells/L (0.27-0.86). The diagnosis of MHC class II deficiency was established on the basis of the loss of MHC II expression on peripheral blood lymphocytes and PHA activated T cells related to homozygous 752delG25 mutation in the RFXANK gene (Figure 1). She was started on intravenous immunoglobulin (0.4 g/kg by 3 weeks) and cotrimoxazole sulfamethoxazole