SCID – Artemis (DCLRE1C Deficiency)
A radiosensitive form of Severe Combined Immunodeficiency caused by mutations in DCLRE1C, leaving infants without functional T and B lymphocytes and at risk of life-threatening infection from the first months of life.
- Radiosensitive SCID Subtype
- Newborn Screening Detectable
- Curative HSCT or Gene Therapy Pathway
- Typical Onset
- Birth to Early Infancy
- Inheritance Pattern
- Autosomal Recessive
- Key Gene
- DCLRE1C (Artemis)
- Detected By
- Newborn Screening (TREC Assay)
Condition Overview
SCID due to Artemis deficiency is caused by mutations in the DCLRE1C gene, which encodes a protein essential for repairing DNA breaks created during the normal process of assembling T and B cell antigen receptors. Without functional Artemis protein, developing T and B lymphocytes cannot complete this process and the immune system fails to develop normally.
This is classified as a radiosensitive SCID because cells from affected infants are also more sensitive to radiation-induced DNA damage generally, which has specific implications for treatment planning, particularly around the intensity of pre-transplant conditioning regimens.
Like other forms of SCID, Artemis deficiency is a pediatric emergency. Affected infants appear healthy at birth but develop severe, recurrent, and often opportunistic infections within the first months of life. Newborn screening using the T-cell receptor excision circle (TREC) assay has made earlier detection possible in many regions, often before symptoms appear.
Types and Subtypes
Artemis-deficient SCID is one of several genetic causes of SCID and is grouped immunologically with other forms that share an absence of T and B lymphocytes but preserved natural killer cells.
Symptoms and Signs
Infants with Artemis-deficient SCID appear healthy at birth but typically develop severe symptoms within the first few months of life if not identified by newborn screening.
Causes and Risk Factors
Artemis-deficient SCID is caused by inherited mutations in the DCLRE1C gene that impair V(D)J recombination, the process that generates diverse T and B cell receptors.
Diagnosis and Investigations
Diagnosis often begins with newborn screening and proceeds through immune phenotyping and genetic confirmation.
Disease Severity and Risk Stratification
SCID does not use a tumor-style staging system. Risk stratification instead reflects infection status and timing of diagnosis relative to transplant, both of which strongly influence outcomes.
Standard Treatment Options
Treatment focuses on preventing infection while moving as quickly as possible toward curative hematopoietic stem cell transplantation, with conditioning regimens adjusted for radiosensitivity.
Advanced & Emerging Therapies
Both transplant and emerging gene therapy approaches are relevant to Artemis-deficient SCID, with conditioning strategy tailored to the radiosensitive nature of this subtype.
Cellular Therapy
Allogeneic Hematopoietic Stem Cell Transplantation
The established curative approach; conditioning intensity is individualized given known radiosensitivity.
Cellular Therapy
Reduced-Toxicity Conditioning Regimens
Increasingly used in radiosensitive SCID subtypes to lower transplant-related toxicity while preserving engraftment success.
Gene Therapy
Investigational Autologous Gene Therapy
Gene therapy approaches are an active area of research for several SCID subtypes; availability for Artemis-deficient SCID specifically should be confirmed with a specialist center.
Biomarkers & Precision Medicine
Immune and genetic markers guide diagnosis, transplant planning, and monitoring of immune recovery.
When a Second Opinion May Be Important
Given the time-sensitive nature of SCID and the specific conditioning considerations in Artemis deficiency, specialist input early in the course is particularly valuable.
Clinical Trials & Research
Prognosis & Outcome Factors
Outcomes in Artemis-deficient SCID depend strongly on how early the diagnosis is made, often through newborn screening, and whether transplant occurs before serious infection develops.
Supportive Care and Living with Artemis-Deficient SCID
Supportive care protects the infant from infection while definitive treatment is arranged and supports recovery afterward.
How CancerFax Helps You Explore Treatment Options
CancerFax helps families of infants with Artemis-deficient SCID obtain urgent specialist immunology report review, coordinate second opinions, and connect with hospitals experienced in radiosensitive SCID transplant, including cross-border care coordination where relevant.
Get a free case reviewFrequently Asked Questions
It is a form of Severe Combined Immunodeficiency caused by mutations in the DCLRE1C gene, which leaves infants without functional T and B lymphocytes from early infancy.
Because the underlying DNA repair defect also increases sensitivity to ionizing radiation, which affects how conditioning regimens are designed before transplant.
Many cases are now detected through newborn screening using the T-cell receptor excision circle (TREC) assay, often before symptoms develop.
Allogeneic hematopoietic stem cell transplantation can be curative, particularly when performed early before serious infection occurs.
Recurrent infections, chronic diarrhea, failure to thrive, and opportunistic infections such as Pneumocystis pneumonia typically appear within the first few months of life.
Yes, genetic testing can identify carrier or affected status in siblings, and HLA typing of siblings is important for donor evaluation.
Because cells are more sensitive to radiation-type DNA damage, specialist centers often use reduced-toxicity conditioning to lower the risk of treatment-related complications.
No, live vaccines should be avoided in infants with suspected or confirmed SCID until immune function has been restored.
It follows autosomal recessive inheritance, meaning both parents typically carry one copy of a mutated DCLRE1C gene.
Yes. CancerFax can help coordinate urgent review of your infant's immunology and genetic reports, facilitate second opinions, and connect your family with hospitals experienced in radiosensitive SCID transplantation, including support for cross-border treatment coordination.
Exploring Care Options for SCID – Artemis (DCLRE1C)?
Send your medical reports for specialist review and connect with centers experienced in primary immunodeficiency and inherited metabolic-inflammatory disease management.