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Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency
- Source :
- Journal of clinical immunology, vol 36, iss 7
- Publication Year :
- 2016
- Publisher :
- Springer Science and Business Media LLC, 2016.
-
Abstract
- The use of HLA-identical hematopoietic stem cell transplantation (HSCT) demonstrates overall survival rates greater than 75% for T-B-NK+ severe combined immunodeficiency secondary to pathogenic mutation of recombinase activating genes 1 and 2 (RAG1/2). Limited data exist regarding the use of HSCT in patients with hypomorphic RAG variants marked by greater preservation of RAG activity and associated phenotypes such as granulomatous disease in combination with autoimmunity. We describe a 17-year-old with combined immunodeficiency and immune dysregulation characterized by granulomatous lung disease and autoimmunity secondary to compound heterozygous RAG mutations. A myeloablative reduced toxicity HSCT was completed using an unrelated bone marrow donor. With the increasing cases of immune dysregulation being discovered with hypomorphic RAG variants, the use of HSCT may advance to the forefront of treatment. This case serves to discuss indications of HSCT, approaches to preparative therapy, and the potential complications in this growing cohort of patients with immune dysregulation and RAG deficiency.
- Subjects :
- 0301 basic medicine
T-Lymphocytes
medicine.medical_treatment
Hematopoietic stem cell transplantation
Granulomatous Disease, Chronic
Regenerative Medicine
medicine.disease_cause
Compound heterozygosity
Autoimmunity
Stem Cell Research - Nonembryonic - Human
Immunology and Allergy
Chronic
Immunodeficiency
autoimmunity
Hematopoietic Stem Cell Transplantation
Immunoglobulins, Intravenous
Hematology
Treatment Outcome
surgical procedures, operative
medicine.anatomical_structure
Granulomatous Disease
Intravenous
Biotechnology
Homologous
Adolescent
RAG deficiency
bone marrow transplantation
Immunology
Immunoglobulins
chemical and pharmacologic phenomena
Biology
Infections
primary immunodeficiency
Autoimmune Disease
Article
Autoimmune Diseases
Immunophenotyping
03 medical and health sciences
immune dysregulation
Genetics
medicine
Transplantation, Homologous
Humans
Lymphocyte Count
Alleles
Homeodomain Proteins
Transplantation
Severe combined immunodeficiency
Inflammatory and immune system
Immune dysregulation
Stem Cell Research
medicine.disease
030104 developmental biology
Mutation
Severe Combined Immunodeficiency
Bone marrow
Biomarkers
Subjects
Details
- ISSN :
- 15732592 and 02719142
- Volume :
- 36
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Immunology
- Accession number :
- edsair.doi.dedup.....65f10b479ff0bca9709e03cde501660f