PhenomeGene — Human Disease Gene Website SeriesEXTL3

Management

Supportive care, revalidation and physiotherapy.

Neurosurgery when cervical malformations and hypoplastic odontoid peg with cervical instability or severe spinal cord injury in case of relatively normal age-related neurodevelopment.

Depending on the lymphopenia and infection rate, protective measures including prophylactic antibiotics and IgG replacement should be considered until recovery of the T cells is evident.