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Common variable immunodeficiency phenotype due to SEC61A1 deficiency

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ORPHA:697417

Classification level: Disorder

Synonym(s):
  • CVID due to SEC61A1 deficiency
  • Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency

Source: PubMed ID 28782633 36198931

Prevalence: -

Inheritance: Autosomal dominant

Age of onset:

ICD-10: D80.8

ICD-11: 4A01.0Y

OMIM: 620670

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.

Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
Français (2020.pdf) - Orphanet Urgences
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