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Atypical Severe Combined Immunodeficiency Caused by a Novel Homozygous Mutation In Rag1 Gene in a Girl who Presented with Pyoderma Gangrenosum: A Case Report and Literature Review

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Abstract

Severe combined immunodeficiency (SCID) is a heterogeneous group of inherited defects involving the development of T- and/or B-lymphocytes. We report a female with atypical severe combined immunodeficiency caused by a novel homozygous mutation at cDNA position 2290 (c.2290C > T) in exon 2 of the RAG1 gene. The patient presented with bronchopneumonia, pyoderma gangrenosum (PG), pancytopenia and splenomegaly. She presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was complicated by PG on left lower ankle at the age of 12. She experienced bronchopneumonia at the age of 15. She was diagnosed with RAG1 deficiency at the age of 16. Her immunological presentation included leucopenia and diminished number of B cells.

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Authors and Affiliations

  1. Department of Pediatric Immunology, Erciyes University School of Medicine, Kayseri, Turkey

    Turkan Patiroglu & H. Haluk Akar

  2. Department of Pediatric Hematology and Oncology, Erciyes University School of Medicine, Kayseri, Turkey

    Turkan Patiroglu, M. Akif Ozdemir & Ekrem Unal

  3. Immunology, Level 4 Camelia Botnar Laboratories, Great Ormond Street Hospital London, WC1N 3JH, London, UK

    Kimberly Gilmour & Frances Henriquez

  4. Regional Molecular Genetics Laboratory, Great Ormond Street Hospital NHS Trust Level 6, House37 Queen Square, York, London, WC1N 3BH, UK

    Shahnaz Bibi

  5. University College London Institute of Immunity and Transplantation, London, NW3 2PF, UK

    Siobhan O. Burns

  6. Department of Immunology, Royal Free London NHS Foundation Trust, London, NW3 2PF, UK

    Siobhan O. Burns

Authors
  1. Turkan Patiroglu
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  2. H. Haluk Akar
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  3. Kimberly Gilmour
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  4. M. Akif Ozdemir
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  5. Shahnaz Bibi
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  6. Frances Henriquez
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  7. Siobhan O. Burns
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  8. Ekrem Unal
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Corresponding author

Correspondence to H. Haluk Akar.

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Patiroglu, T., Akar, H.H., Gilmour, K. et al. Atypical Severe Combined Immunodeficiency Caused by a Novel Homozygous Mutation In Rag1 Gene in a Girl who Presented with Pyoderma Gangrenosum: A Case Report and Literature Review. J Clin Immunol 34, 792–795 (2014). https://doi.org/10.1007/s10875-014-0077-5

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  • DOI: https://doi.org/10.1007/s10875-014-0077-5

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