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Combined immunodeficiency due to CARMIL2 deficiency
Disease definition
A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.
ORPHA:542301
Classification level: Disorder- Synonym(s):
- Combined immunodeficiency due to RLTPR deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: D82.3
- OMIM: 618131
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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