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Activated PI3K-delta syndrome 1

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ORPHA:693661

Classification level: Disorder

Synonym(s):
  • Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1
  • Activated p110delta syndrome, type 1
  • APDS1
  • APDS type 1
  • Activated phosphoinositide 3-kinase delta syndrome-1
  • PASLI-CD

Source: PubMed ID 16984281 34249806 36198931

Prevalence: -

Inheritance: Autosomal dominant

Age of onset:

OMIM: 615513

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
Disease review articles
Clinical genetics review
English (2025) - GeneReviews
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.