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The study of inbred populations has contributed remarkably to the description of new autosomal recessive primary immunodeficiencies (PIDs). Here, we examine the pattern of PIDs in North African populations and assess the impact of highly prevalent consanguinity. This review reports on the current status of pediatricians' awareness of PIDs in Egypt, Morocco, and Tunisia, where awareness of PIDs is relatively recent. The phenotypic distribution of PIDs is reported and compared among the three countries and with other populations. Data analysis reveals a prevalence of autosomal recessive forms and a peculiar distribution of major PID categories, particularly more combined immunodeficiencies than antibody disorders. In these endogamous communities, molecular diagnosis is critical to developing a genetic-based preventive approach. The organization of diagnosis and care services in these resource-limited settings faces many obstacles. Autosomal recessive PIDs are overrepresented; thus, it is critical to continue investigation of these diseases in order to better understand the underlying mechanisms and to improve patient care.

T1D after BMT constitutes a human model of autoimmune disease transmission. This case report refers to T1D onset after allogeneic HLA-matched BMT in a six-yr-old recipient affected by aplastic anemia. The donor was his sister who had T1D. The recipient had a complication free course apart from grade 1 acute GVHD, which was resolved spontaneously. With the predictive value and significance of T1D-associated autoantibodies, we tried to consolidate the T1D transfer possibility based on our patient characteristics and a literature review.

Mellouli F, Ouederni M, Dhouib N, Hajkacem MA, Slim A, Bejaoui M. Successful treatment of influenza A virus by oseltamivir in bone marrow transplant recipients. Pediatr Transplantation 2010:14: 178–181. © 2008 John Wiley & Sons A/S. Abstract: INFVA is an important cause of pulmonary infections in patients receiving BMT, and is associated with considerable morbidity and mortality for a readily preventable and treatable infection. Few studies have addressed the impact of the new neuraminidase inhibitors in the prognosis of influenza after BMT. The aim of this study is to assess the impact of oseltamivir on the control of INFVA infection in BMT recipients. INFVA was screened in NPA and/or bronchoalveolar lavage using IF in all BMT recipients having respiratory symptoms. Three URTI and one associated upper and LRTI were diagnosed in three BMT recipients out of six patients admitted to the BMT unit, during eight-wk period (March and April 2008). All patients having INFVA respiratory infection were treated by oral oseltamivir 60 mg/day, begun more than 48 h after symptom onset. Respiratory symptoms disappeared within a mean of 60 h (48–96 h) of treatment. However, viral tests had remained positive for 8–39 days. Outside the initial associated URTI and LRTI, no further viral pneumonia occurred. No patient died of INFVA. Oseltamivir was well tolerated outside vomiting during the first three days of treatment in one patient. Oseltamivir appears to play an important role in the outcome of INFVA infection as well in URTI as in severe LRTI in patients receiving BMT.

Background Although the equimolecular mixture of oxygen and nitrous oxide (EMONO) seems a good choice to relieve procedure-related pain in children, it has not been evaluated for insertion of central venous catheters in children. To assess the safety and the effectiveness of this gas mixture for insertion of central venous catheters, we conducted a prospective observational study. Procedure This study was performed by the “Centre National de Greffe de Moelle Osseuse.” Procedure and inhalation characteristics, as well as pain evaluations and side effects, were reported. Results Fifty central venous catheters were inserted in 50 consecutive children. Median age was 7 (range, 4–13) years. An anesthesiologist was responsible for delivering EMONO, and provided constant surveillance throughout the procedure. EMLA cream was applied 2 hr before EMONO inhalation. No associated drugs were used. All catheters were inserted by the same experienced physician in the operating theater. Median inhalation length was 5 min (range, 3–6) before starting catheter's insertion and 12 min (range, 9–25) for the total inhalation. Median procedural pain evaluations were 10 (range, 0–30) for children on a 0–100 visual analog scale (VAS). Minor side effects were observed during eight (16%) inhalations. These side effects were euphoria (14%), deep sedation (4%), nausea and vomiting (2%), hallucinations (2%). All side effects were transient and resolved within 5 min after removing the inhalation device. Conclusions This study which shows that EMONO is effective for insertion of central venous catheters in children and represents a simple and safe alternative to general anesthesia. Pediatr Blood Cancer 2004;43:777–779. © 2004 Wiley-Liss, Inc.