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

<p>Abstract</p> <p>Background</p> <p>Major 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.</p> <p>Case reports</p> <p>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.</p> <p>Conclusions</p> <p>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.</p

Pseudotumoral cutaneous aspergillosis in chronic granulomatous disease, report of a pediatric case.

International audienceInvasive aspergillosis is a life-threatening condition in patients with chronic granulomatous disease (CGD). Skin invasion by Aspergillus occurs most commonly by contiguity to a neighboring cavity. We describe an unusual case of invasive cutaneous aspergillosis presented as a large burgeoning tumor in a 4-year-old girl with CGD who underwent surgical treatment for bifocal osteomyelitis of the left leg. The skin invasion occurred 4 months after a "successful" treatment of invasive pulmonary aspergillosis. Atypical presentation and diagnostic difficulties are discussed. Invasive cutaneous aspergillosis may be polymorphic. The diagnosis should be considered early in the etiological investigation of any suspicious skin lesions in CGD even in uncommon aspects such as burgeoning tumors

Granulome annulaire généralisé, thyroïdite auto-immune et diabète insulinodépendant. A propos d’une observation

Les Auteurs rapportent l’observation d’un granulome annulaire généralisé survenu chez une patiente âgée de 16 ans présentant un diabète de type I. Un bilan immunologique pratiqué dans le cadre de son diabète, découvre des anticorps antimicrosomaux et des anticorps antigliadine de type IgA. La recherche des anticorps antigliadine de type IgG et des anticorps antiendomesium de type IgG était, par ailleurs, négative. Ce bilan traduit l’existence d’une thyroïdite auto-immune associée au diabète et fait suspecter une maladie coeliaque. Cette nouvelle observation de granulome annulaire, survenant sur un terrain dysimmunitaire, vient renforcer l’hypothèse d’une origine auto-immune du granulome annulaire

Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature

International audienceSmall supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that are difficult to identify by conventional cytogenetic techniques. sSMCs are 3.75 times more common in infertile men than in the general population. This study aimed at characterizing a supernumerary marker chromosome in a nonconsanguineous infertile couple and analyzing its meiotic segregation in sperm by multicolor FISH. The male partner’s karyotype was mos 47,XY,+idic(15)(pter→q11.1::q11.1→pter)[6]/46,XY[24].ish idic(15)(NOR+,D15Z3+,SNRPN–,D15Z3+,NOR+). In triple FISH using CEP 15, BAC 15, and BAC 21 probes, 4,227 spermatozoa of the patient were analyzed, and the sSMC was detected in only 0.66% of spermatozoa. In triple FISH employing CEP X, CEP Y, and BAC 18 probes, 2,008 spermatozoa of the patient were analyzed. The frequency of disomic and diploid sperm was not significantly different from control donors. To our knowledge, segregation of an sSMC 15 has been reported in only 9 males with non-mosaic karyotypes. These studies described rates of spermatozoa with sSMC 15 ranging from 6.23% to more than 50%. In this work, we report the first meiotic segregation analysis of a chromosome 15-derived sSMC in spermatozoa of a patient with a mosaic karyotype. The low rate of spermatozoa with sSMC detected is concordant with the low proportion of abnormal cells in our patient’s lymphocytes. Moreover, the risk of interference of this sSMC with other chromosomes seems minimal. Genetic counseling was recommended given that the risk of chromosomal imbalance in the fetus linked to paternal sSMC was very low. Finally, a healthy boy was born after a natural pregnancy