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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.


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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