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X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

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ORPHA:696945

Classification level: Disorder

Synonym(s):
  • X-linked CVID phenotype due to SH3KBP1 deficiency
  • X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency

Source: PubMed ID 29636373 3578432 36198931

Prevalence: -

Inheritance: X-linked recessive

Age of onset:

OMIM: 300310

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
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.