Delay in diagnosis in children with visceral leishmaniasis: A single-center experience [Çocukluk viseral leishmaniasisinde gecikmiş tanı: Bir merkez deneyimi]

Objective: Visceral leishmaniasis (VL) is a systemic disease characterized with irregular fever, hepatosplenomegaly, and pancytopenia. Because VL is difficult to detect, misdiagnosis is common and treatment is often inappropriate and delayed. The aim of this article defines the reasons that cause a delay in diagnosis of the disease in Western Anatolia, where VL is endemic. We hope this article helps clinicians to improve their knowledge about the diagnosis of VL and to consider of the disease better. Material and Methods: The clinical and laboratory data records of 15 patients with VL who had been diagnosed and followed up in our hospital from August 2005 to December 2011 were retrospectively reviewed. The demographic, clinical, and laboratory features of the patients were recorded. Results: Thirteen patients were from Western Anatolia, which is the most endemic region of Turkey. The most common complaints were pallor and fever. All patients had hypoalbuminemia, hyperglobulinemia, and cytopenia. The symptoms of the patients had begun 5-180 days before admission. Conclusion: We concluded that VL should be considered in patients with prolonged fever, pallor, hepatosplenomegaly, and cytopenia and those who live in an endemic region. Education for general practitioners and pediatricians is necessary, and these educational efforts may reduce the delay in diagnosis. ©Telif Hakkı 2015 Çocuk Enfeksiyon Hastalıkları Derneği - Makale metnine

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, and malignancy. We identified 4 distinct homozygous mutations in TNFRSF9 encoding the tumor necrosis factor receptor superfamily member CD137/4-1BB, leading to reduced, or loss of, protein expression. Lymphocytic responses crucial for immune surveillance, including activation, proliferation, and differentiation, were impaired. Genetic reconstitution of CD137 reversed these defects. CD137 deficiency is a novel inborn error of human immunity characterized by lymphocytic defects with early-onset Epstein-Barr virus (EBV)-associated lymphoma. Our findings elucidate a functional role and relevance of CD137 in human immune homeostasis and antitumor responses