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Summary:We retrospectively analyzed the outcome of hematopoietic stem cell transplantations (HSCT) performed at our Center between 1991 and 2002 in 11 unselected patients with Omenn syndrome, a variant of severe combined immunodeficiency. The patients’ mean age at the time of the first HSCT was 8.4 months. Two patients received two, and one patient three, HSCT procedures. The resulting 15 HSCT derived in seven cases from HLA-haploidentical parents, in four patients from matched unrelated donors, in three cases from an HLA phenotypically identical related donor, and in one case from an HLA genotypically identical family donor. Nine out of 11 patients are alive and immunoreconstituted 30–146 months after transplantation. At the time of the most recent evaluation, all of the nine survivors had normal T-cell function, and eight of them had developed normal antibody production. This study demonstrates an overall mortality of 18.2%, which is substantially lower than previously reported. Early recognition of OS, rapid initiation of adequate supportive treatment and HSCT lead to improved outcome for this otherwise fatal disease, regardless of the origin and matching of hematopoietic stem cells.Bone Marrow Transplantation (2005) 36, 107–114. doi:10.1038/sj.bmt.1705017 Published online 23 May 2005 [ABSTRACT FROM AUTHOR]

The use of conventional amphotericin B is limited by toxicity, side-effects, drug interactions and the need for large infusion volumes, especially for infants. Use of liposomal amphotericin B (AmBisome) in 15 paediartric BMT patients with primary immunodeficiency (PID) was therefore studied. Adverse clinical reactions to AmBisome and biochemical profiles were monitored daily for 2 weeks before, during and after each treatment episode. Fungal cultures were obtained weekly and when patients were pyrexial. There were 18 treatment episodes. Mean daily dose was 5 mg/kg (2–6 mg/kg). Mean duration of treatment was 25 days (5–90 days). Clinical reactions to AmBisome were observed in one infant who had a pyrexia of 38°C. One of the 15 infants had a significant increase in creatinine level while on concomitant nephrotoxic therapy. Four developed mild hypokalaemia on AmBiosome which resolved with increased potassium supplementation. AmBisome was well tolerated and without significant renal or hepatic toxicity in severely ill immunodeficient infants receiving multiple nephrotoxic and hepatotoxic drugs such as cyclosporin, vancomycin and foscarnet. [ABSTRACT FROM AUTHOR]

Analysis of pediatric deaths associated with pandemic A H1N1 influenza shows that fatal outcome is more likely in young children, under the age of 5. Neonates, because of the immaturity of their immune system, could represent a high-risk group for severe disease and fatal outcome. We present a group of five neonates with confirmed novel influenza A H1N1 infection. This report indicates that the full spectrum of influenza A H1N1 infection ranging from mild febrile illness with spontaneous recovery to severe disease with fatal outcome may be expected even in neonates. [ABSTRACT FROM AUTHOR]

Unlabelled: A patient with Wiskott-Aldrich syndrome who developed Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis (EBV-HLH) is described in this study. At 4 mo of age the patient developed fever associated with bicytopenia and splenomegaly. Analysis of a bone marrow specimen revealed extensive haemophagocytosis, and in situ hybridization for EBV of the bone marrow specimen using an EBV-encoded RNA probe was positive. Diagnosis of EBV-HLH was established and immunotherapy with HLH-94 protocol was started. HLH has been described in patients with other well-defined primary immunodeficiencies such as X-linked lymphoproliferative syndrome, Chediak-Higashi syndrome and Griscelli disease. Also, HLH was reported recently in severe combined immunodeficiency and DiGeorge syndrome.Conclusion: The possibility of an underlying primary immunodeficiency should be considered in paediatric patients who present with HLH during infancy. [ABSTRACT FROM AUTHOR]

Unlabelled: We report on a 10-y-old boy who developed Pneumocystis carinii pneumonitis (PCP) as the dominant symptom at the onset of haemophagocytic lymphohistiocytosis (HLH). PCP is a common infection in patients with combined primary immunodeficiencies or acquired immunodeficiency syndrome but it has rarely been observed at the onset of HLH. Typically, HLH presents as a febrile syndrome associated with cytopenia and hepatosplenomegaly. Repeated bone marrow aspirates, spleen or lymph node biopsies are sometimes required to reveal haemophagocytosis. Because of the significant immunosuppression during treatment of HLH, prophylaxis of PCP with co-trimoxazole is recommended. However, de-arranged immune response in HLH renders the patients susceptible to opportunistic infections, even before the introduction of immunosuppressants.Conclusion: We suggest that in patients with unclear respiratory symptoms, it is worth considering a differential diagnosis of HLH. [ABSTRACT FROM AUTHOR]

Reports on a 14-month-old male infant with hyperimmunoglobulin-E syndrome (HIES) who developed persistent/local infection after bacillus Calmette-Guerin (BCG) immunization in infancy. Characteristics of HIES; Complications of BCG immunization; Spontaneous resolution of the persistent/local BCG infection.

An abstract of the conference paper "Therapeutic approaches for the treatment of new onset and flared juvenile systemic lupus erythematosus with active renal disease: an international multicenter PRINTO study," by S. Pasic, and colleagues, is presented.