Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy

We describe an unusual case of severe combined immunodeficiency [SCID] with neutropenia and central nervous system [CNS] manifestations in which a novel RAG1 mutation was identified. A 15-month-old boy presented with failure to thrive, neutropenia and recurrent infections. He was diagnosed with T-BNK+ SCID. He subsequently developed right partial seizures with ipsilateral hemiparesis and became comatose. Magnetic resonance imaging [MRI] of the brain revealed an inflammatory lesion in the left thalamus which later progressed to diffuse meningo-encephalitis on serial imaging. No CNS infection was documented. Genetic work-up in the child revealed a novel homozygous deleterious mutation in the RAG1 gene [c:2881T>C; p:I794T], for which both parents were heterozygous. He underwent a haploidentical bone marrow transplant without conditioning and died on day +35 with no improvement in his neurological status. The features of neutropenia and progressive encephalopathy could be linked to the novel genetic defect but more data is required to establish this conclusively.

Dengue fever causing febrile neutropenia in children with acute lymphoblastic leukemia: An unknown entity

Dengue fever is endemic in many parts of the world but it has not been described as a cause of febrile neutropenia. We describe here clinical features, laboratory values and outcome in 10 children with acute lymphoblastic leukemia [ALL] and with dengue fever as a cause of febrile neutropenia. These data are compared to an age-matched control population of 22 children with proven dengue infection without ALL. Except for fever in all patients and plethoric face in one patient, typical symptoms of dengue such as abdominal pain, myalgias, and headaches, were absent. Mean duration of hospital stay was 6.3 +/- 2.0 days in ALL patients vs. 5.0 +/- 2.0 in controls [p = 0.096]. Median platelet count was 13,000/ cmm [range 1000-28,000] in cases vs. 31,500 [range 13,000-150,000] in controls [p = 0.018]. Mean time for recovery for platelet was 6.0 +/- 1.3 days in ALL patients vs. 2.5 +/- 0.9 days in controls [p < 0.001]. All 10 patients survived. In endemic areas, high suspicion of dengue fever should be maintained in children with ALL and febrile neutropenia although typical symptoms may be lacking. Platelet recovery may be significantly delayed

Post-dengue fever severe aplastic anemia: a rare association

Dengue fever has rarely been reported as an etiology for aplastic anemia. An 8-year-old girl was admitted with fever, myalgia and petechiae. Dengue virus IgM antibodies were positive. She recovered completely, but her thrombocytopenia persisted. Six weeks later she became pancytopenic. A bone marrow aspirate and biopsy showed severe aplastic anemia. She was treated with antithymocytic immunoglobulin, methylprednisolone and cyclosporine. She became transfusion independent 6 months later. Dengue-virus induced aplastic anemia is a rare entity, but it must be identified early for better outcome. Immunosuppressive therapy can induce remission