Severe combined immunodeficiency (SCID) is a rare and life-threatening primary immunodeficiency characterized by defective T cell development. SCID results from various genetic mutations, leading to increased susceptibility to severe infections. Early diagnosis and treatment, including hematopoietic stem cell transplantation (HSCT), are crucial for survival.
A retrospective analysis of patients diagnosed with SCID in pediatric immunology and allergy clinic in Queen Rania Children’s Hospital, Amman, Jordan, in the period between 2010 and 2025. Data were collected on age of presentation, diagnostic delays, genetic mutations, clinical features, gender distribution, and mortality; patients with proven genetic test were included. The median and interquartile ranges (IQR) for age at presentation and diagnostic delay were calculated. Additionally, correlations between specific gene mutations and clinical features were analyzed.
47 patients (25 males, 53%) with proven SCID were included, and the median age at presentation was 3 months (IQR 2-7 months), with a median diagnostic delay of 4 months (IQR 1-16 months). The most common gene mutation was DCLRE1C (17 patients, 36.1%) followed by RAG2 mutation (10 patients, 21.2%) and RAG1 mutation (4 patients, 8.5%). The most common clinical presentation was pneumonia (78.7%), followed by failure to thrive (70.2%) and oral candidiasis (61.7%). DCLRE1C (Artemis) mutation was strongly associated with pneumonia, failure to thrive, and gastrointestinal infections.
SCID remains a devastating disease with significant diagnostic delays and high mortality. DCLRE1C (Artemis) mutation was the most frequently identified. Pneumonia, failure to thrive, and gastrointestinal infections are key clinical markers. Correlations between genetic mutations and clinical features highlight the importance of genetic screening for early diagnosis and timely intervention.
