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A newly found homozygous mutation in recombination activating gene 1 in a patient with leaky severe combined immunodeficiency disorder

  • Fereshteh Salari
  • Fatemeh Zaremehrjardi
  • Saba Arshi
  • Mohammad Hassan Bemanian
  • Morteza Fallahpour
  • Sima Shokri
  • Farhad Seif
  • Masoud MovahediEmail author
  • Mohammad NabaviEmail author
Short Communication

Abstract

The recombination activating genes, including RAG1 and RAG2, are essential for V(D)J somatic recombination in lymphocytes. Leaky severe combined immunodeficiency disorder (SCID) is characterized by normal or intermediate T cells and normal to absent B cells associated with partial T cell and B cell dysfunction. We present a newly found RAG1 deficiency in a 21-year-old boy with leaky SCID. Immunoglobulin levels, flow cytometry, and whole exome sequencing (WES) were evaluated. Flow cytometric analysis revealed a decreased number of CD3+, CD4+, and CD8+ T cells, and B cells whereas NK cell counts were normal. Immunoglobulin levels were also decreased. The WES revealed a newly found homozygous mutation of RAG1 gene (NM_000448: exon 2: c.C2275T). Atypical features, including leukopenia, candidiasis, and low lymphocyte counts in patients with late-onset combined immunodeficiency disorders (CID) such as leaky SCID due to RAG1 deficiency may result in misdiagnosis and inadequate therapy instead of adopting the curative hematopoietic stem cell transplantation in these patients.

Keywords

RAG deficiency SCID Whole exome sequencing Mutation 

Notes

Author contributions

FS gathered the data. FS and FS wrote the manuscript. SA, MB, MN, MF, FZ, SS, and MM contributed to the patient management. All authors edited and approved the final version of the paper.

Funding

No funding was provided for this work.

Compliance with ethical standards

Conflict of interest

The authors declare they have no conflict of interests.

Ethical approval

The present case report was approved by the Ethics Committee of the Iran University of Medical sciences (Iran).

Informed consent

Written informed consent was obtained from the patient.

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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  • Fereshteh Salari
    • 1
  • Fatemeh Zaremehrjardi
    • 1
  • Saba Arshi
    • 1
  • Mohammad Hassan Bemanian
    • 1
  • Morteza Fallahpour
    • 1
  • Sima Shokri
    • 1
  • Farhad Seif
    • 2
    • 3
  • Masoud Movahedi
    • 4
    Email author
  • Mohammad Nabavi
    • 1
    Email author
  1. 1.Department of Allergy & Clinical ImmunologyIran University of Medical SciencesTehranIran
  2. 2.Academic Center for Education, Culture, and ResearchTehran University of Medical SciencesTehranIran
  3. 3.Neuroscience Research CenterIran University of Medical SciencesTehranIran
  4. 4.Immunology Asthma, and Allergy Research InstituteTehran University of Medical SciencesTehranIran

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