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Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

Ibtihal Benhsaien1,2, Fatima Ailal1,3, Khadija Elazhary2

  • 1Clinical Immunology Unit, Infectious Disease Department; Children Hospital, IBN Rochd University Hospital, Casablanca, Morocco.

Case Reports in Immunology
|January 28, 2021
PubMed

Insights

Severe combined immunodeficiency (SCID) is a critical pediatric condition. A novel RAG2 gene mutation, c.826G>A (p.Gly276Ser), identified in two SCID cases, aids early diagnosis.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) is a group of inherited disorders causing severe defects in cellular and humoral immunity.
  • SCID is a pediatric emergency, leading to life-threatening infections without timely treatment like hematopoietic stem cell transplantation.

Observation:

  • Two cases of SCID are presented: an infant diagnosed at birth and a 4-month-old boy with recurrent infections and failure to thrive.
  • Immunological workup confirmed the SCID phenotype in both patients.

Findings:

  • Genetic analysis revealed a novel homozygous mutation in the RAG2 gene (c.826G>A, p.Gly276Ser) in both SCID cases.
  • This specific RAG2 mutation was identified as the cause of SCID in these patients.

Implications:

  • The identification of this novel RAG2 mutation facilitates earlier and more accurate diagnosis of SCID.
  • Understanding the genetic basis of SCID aids in developing targeted diagnostic and potentially therapeutic strategies.

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