Management

Management options and surveillance

For the recessive immunodeficiency form:
•    Early recognition and referral for immunology/HSCT teams.
•    Immunoglobulin replacement, infection prophylaxis, HSCT transplantation (in one reported case).
•    Hearing/developmental support early. Genetic counselling for AR inheritance.

For the dominant adult‐onset hearing/vestibular form:
•    Audiology screening for at‐risk heterozygotes (especially age ≥30–40 and onwards).
•    Regular vestibular assessment in carriers.
•    Hearing‐rehabilitation: hearing aids/cochlear implants as per standard of care for progressive sensorineural hearing loss.
•    Genetic counselling for AD inheritance. Family screening of carriers, discussion of penetrance/expressivity.