Orphanet: Severe combined immunodeficiency due to CARMIL2 deficiency
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Severe combined immunodeficiency due to CARMIL2 deficiency

ORPHA:542301

Classification level: Disorder
  • Synonym(s):
    • Severe combined immunodeficiency due to RLTPR deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D81.9
  • OMIM: 618131
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located at the bottom of this page.

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