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Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings

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Abstract

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK. We report two siblings with MKD, presenting with recurrent febrile illnesses, detected to have compound heterozygous variants in MVK. MKD mimics common pediatric conditions and should be considered as a differential diagnosis.

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Authors and Affiliations

  1. All India Institute of Medical Sciences, New Delhi, India

    Alec Reginald Errol Correa, Neerja Gupta & Narendra Bagri

  2. Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Pandiarajan Vignesh

  3. Institute of Liver and Biliary Sciences, New Delhi, India

    Seema Alam

  4. Shimane University School of Medicine, 89-1 En-ya-cho, Izumo Shimane, Japan

    Seiji Yamaguchi

Authors
  1. Alec Reginald Errol Correa
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  2. Neerja Gupta
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  3. Narendra Bagri
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  4. Pandiarajan Vignesh
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  5. Seema Alam
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  6. Seiji Yamaguchi
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Contributions

AREC: case management, draft the initial and revised manuscript; NG: data collection, diagnosis, case management and conceptualization of the study, manuscript review and revision; NB,PV,SA: case management and manuscript review and revision; SY: case diagnosis and manuscript review. All authors approved the manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Neerja Gupta.

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Competing interest

None stated.

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Correa, A.R.E., Gupta, N., Bagri, N. et al. Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings. Indian Pediatr 57, 180–181 (2020). https://doi.org/10.1007/s13312-020-1742-9

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  • DOI: https://doi.org/10.1007/s13312-020-1742-9

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