Abstract
We describe a 2-year old boy with consanguineous parents who recently emigrated from India and presented with oral ulcers and lymphadenopathy. He also had a history of recurrent fevers, polyarticular arthritis, chronic diarrhea, failure to thrive, and developmental delay. Infectious workup revealed herpes simplex virus 1 viremia and radiological evaluation revealed osteopenia and erosions involving multiple joints. We describe the immunologic and genetic evaluation of this patient and discuss the diagnostic and therapeutic approach to an infant with recurrent fevers.
MeSH terms
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Anti-Inflammatory Agents / administration & dosage
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Arthrography
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Child, Preschool
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Consanguinity
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DNA Mutational Analysis
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DNA, Viral / analysis*
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Diagnosis, Differential
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Failure to Thrive / diagnosis*
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Failure to Thrive / drug therapy
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Failure to Thrive / genetics
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Fever / diagnosis*
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Fever / drug therapy
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Fever / genetics
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Herpes Simplex / diagnosis*
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Herpes Simplex / drug therapy
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Herpes Simplex / genetics
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Herpesvirus 1, Human / genetics*
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Homozygote
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Humans
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Interleukin 1 Receptor Antagonist Protein / administration & dosage
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Limb Deformities, Congenital / diagnosis*
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Limb Deformities, Congenital / drug therapy
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Limb Deformities, Congenital / genetics
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Male
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Mutation / genetics
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Pedigree
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Phosphotransferases (Alcohol Group Acceptor) / genetics
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Phosphotransferases (Alcohol Group Acceptor) / metabolism*
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Recurrence
Substances
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Anti-Inflammatory Agents
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DNA, Viral
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Interleukin 1 Receptor Antagonist Protein
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Phosphotransferases (Alcohol Group Acceptor)
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mevalonate kinase