Gene therapy for primary immunodeficiencies.

Gene therapy has effectively entered Medicine via the field of primary immunodeficiencies (PID). Because hematopoietic stem cells are accessible and because it was understood that genetic correction of lymphocyte progenitor cells carrying a genetic defect impairing differentiation, could result in the production of long-lived T lymphocytes, it was reasoned that ex vivo gene transfer in hematopoietic cells could lead to disease phenotype correction. Retroviral vectors were designed to ex vivo transduce such cells. This has indeed been shown to lead to sustained correction of the T cell immunodeficiency associated with two forms of severe combined immunodeficiencies (SCID) for now more than ten years. Occurrence in some patients of genotoxicity related to retroviral vectors integration close to and transactivation of oncogenes has led to the development of retroviral vectors devoid of its enhancer element. Results of recent trials performed for several forms of PID indeed suggest that their use is both safe and efficacious. It is thus anticipated that their application to the treatment of many more life threatening PID will be developed over the coming years.

Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.

Scarce data exist on allogeneic hematopoietic stem cell transplantation (HSCT) outcomes in hepatitis B virus (HBV)-naïve recipients from HBV-experienced donors. Long-term follow-up is herein reported for 17 allogeneic HSCT performed in 13 HBV-naïve children from HBc-antibodies-positive donors between 2006 and 2012. Four donors were HBs-antigen-positive, with detectable but low viremia in 2 cases (<2 log10IU/ml). HBV-DNA was undetectable in all transplanted cell products. Recipients' HBV prophylaxis consisted of pre-transplant vaccination, polyvalent immune globulins, specific anti-HBV immune globulins, and/or oral lamivudine in 3, 12, 8, and 8 children, respectively. No case of HBV transmission occurred based on negative close monitoring of recipients' HBV serology and plasma HBV-DNA during a median follow-up of 22 months. In case of undetectable viremia in the donor, prophylaxis with vaccination and/or immune globulins in the recipient seems to be sufficient and lamivudine prophylaxis might be unnecessary to prevent viral transmission. In case of undetectable viremia in the donor, a systematic screening of HBV DNA in the stem cell product might be unnecessary to confirm the low risk of viral transmission. Prior exposure to HBV in the donor should not be considered a contraindication to HSCT.

[Recurrent pyloric stenosis in a 7-year-old child with chronic granulomatous disease]. / Sténoses pyloriques récidivantes chez un enfant de 7ans atteint de granulomatose septique chronique.

Hypertrophic pyloric stenosis is a common affection in infants aged 3-8 weeks and typically does not affect older children. We report a case of pyloric stenosis that occurred recurrently at the ages of 3 and 7 years in a boy with X-linked chronic granulomatous disease. We emphasize the inflammatory origin of such stenosis, whose progression was favorable thanks exclusively to drug treatment with corticosteroids. We note that chronic granulomatous disease can affect the entire digestive tract, similar to inflammatory bowel disease in children.

Polyarthritis and anemia in a hemodialysis patient: systemic lupus erythematosus following treatment with interferon alpha.

Autoimmune manifestations may occur with interferon alpha (IFNalpha) therapy. However IFNalpha-induced systemic lupus erythematosus is a rare event. We report a 33-year-old hemodialysis patient who presented polyarthritis and anemia 4 months after initiation of IFNalpha for chronic hepatitis C. Systemic lupus erythematosus was diagnosed. Clinical symptoms improved rapidly with interruption of the treatment and a low-dose steroid therapy. This is the first case of IFN-induced SLE in a hemodialysis patient to confirm the major role of IFNalpha in the lupus physiopathology. Treatment with steroid therapy does not seem to worsen the HCV infection.

[Acute bartholinitis caused by Pseudomonas aeruginosa in an 18-month-old infant]. / Bartholinite aiguë à Pseudomonas aeruginosa chez un nourrisson d'un an et demi.

UNLABELLED: Acute bartholinitis is a disease usually seen in women in the period of genital activity. Its occurence in a prepubertal child is an extremely rare event. CASE REPORT: We describe the case of a 18-month-old infant presenting a Bartholin's gland abces caused by Pseudomonas Aeruginosa with a resolutive evolution after antibiotherapy and surgical drainage. CONCLUSION: Diagnosis of Bartholinitis should be considered in any female infant with a labial enlargement.