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

Abstract

BackgroundMajor histocompatibility complex class II deficiency, also referred to as bare lymphocyte syndrome is a rare primary Immunodeficiency disorder characterized by a profondly deficient human leukocyte antigen class II expression and a lack of cellular and humoral immune responses to foreign antigens. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections. The infections begin in the first year of life and involve usually the respiratory system and the gastrointestinal tract. Severe malabsorption with failure to thrive ensues, often leading to death in early childhood. Bone marrow transplantation is the curative treatment.Case reportsHere 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.ConclusionsViral 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 Next Generation Sequencing (NGS)-based approach to diagnosing Algerian patients with suspected Inborn Errors of Immunity (IEIs)

“…Both male children were hypogammaglobulinemic and began suffering from recurrent pulmonary and/or GI infections in the first year of life. Consistent with his known parental consanguinity, F1.II.3 was homozygous for a pathogenic RFXANK variant c.338-25_338del previously reported in the literature as a well-characterized founder mutation for MHC class II deficiency in those of North African ancestry [33][34][35][36][37][38][39][40], while F7.II.2 was compound heterozygous for the same variant and a novel maternally inherited pathogenic variant c.232C>T, p.(Arg78Ter). Defects in RFXANK account for >70% of all known cases of MHC II deficiency, with >200 patients reported worldwide, the majority of whom are of North African origin [41].…”

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children

“… 4 , 5 In the present study, recurrent oral papillomatous lesions related to human papillomavirus were seen in two sisters with major histocompatibility complex class II deficiency. 13 Warts, described as benign skin growths that develop on different parts of the body and can take on various forms, disseminated warts were found in 2 patients with WHIM syndrome and ataxia telangiectasia. Persistent mucocutaneous candidiasis may be the initial presenting sign for PID in infancy, especially in those with severe combined immunodeficiency disease.…”

Periodontal and other oral manifestations of immunodeficiency diseases

“…MHC I molecules are needed for CD8 T‐cell expression, and MHC II particles present antigens to CD4 cells. MHC II‐deficient patients are susceptible in their first year or two of life to severe infections, mainly viral infections, which are the major cause of death (Cole and Cant, ; Guirat‐Dhouib et al , ). Other associated features include vasculitis, pyoderma gangrenosum, respiratory tract infections, and liver tract disease.…”