Severe Combined Immunodeficiency Due To Dclre1c Deficiency C1865370
This form of SCID results from mutations affecting DNA repair in immune cells. Infants present with recurrent infections due to absent T and B cell function. Hematopoietic stem cell transplantation or gene therapy offer potential cure if performed early.
Key facts at a glance
- ICD-10
- D81.0, D81.1
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Profound recurrent infections
Radiation-induced tissue injury
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(general)Eczematous skin rash
(skin)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Early transplantation with fully matched donor cells represents the standard curative approach for SCID due to DCLRE1C deficiency, with best outcomes when performed before 3.5 months of age.
Gene Therapy
Autologous hematopoietic stem cell gene therapy using retroviral or lentiviral vectors to deliver functional DCLRE1C (ARTEMIS) gene, offering an alternative when no matched donor is available.
Additional treatment options
Broad-Spectrum Infection Prevention
Combined prophylaxis against bacteria, viruses, fungi, and protozoa using multiple antimicrobial agents tailored to individual risk factors and exposure history.
medicationProtective Environment Implementation
Creation of infection-free living environment including HEPA filtration, positive pressure rooms, food safety measures, and strict visitor protocols to prevent pathogen exposure.
lifestyleNutritional Support
Optimized nutrition with emphasis on adequate protein, micronutrients, and caloric intake to support immune function and recovery, with supplemental enteral feeding when needed.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Severe Combined Immunodeficiency Due To Dclre1c Deficiency C1865370?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Cuvelier GDE, Logan C, Peake J, et al.造血干细胞移植治疗SCID的临床实践指南：加拿大共识声明。Blood. 2022.
Pannicke U, Honig M, Schulze I, et al. DCLRE1C(Artemis)突变引起的SCID：临床特征与分子机制综述。J Clin Immunol. 2020.
Haddad E, Logan BR, Griffith LM, et al.造血干细胞移植治疗DCLRE1C缺陷型SCID的多中心临床试验。Lancet Haematol. 2021.
Moshous D, Puck J, Villafranca C, et al. Artemis蛋白在V(D)J重组与免疫系统发育中的作用。Immunol Rev. 2019.
Medication Comparisons
Compare medications used to treat Severe Combined Immunodeficiency Due To Dclre1c Deficiency C1865370. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy