Autoszomális domináns
Caused by gain-of-function changes in one copy of CXCR4. The changes stop the receptor switching off properly (impaired desensitisation), which keeps neutrophils and other white blood cells in the bone marrow instead of releasing them into the blood.
Tünetek és jelek
Low neutrophil and lymphocyte counts in the blood with recurrent infections. Widespread warts are common, and antibody levels are often low. Reduced bone density has been reported in about a quarter of patients.
Mit változtat a diagnózis
Treatment can include antibiotics for infections, and mavorixafor, a CXCR4 antagonist, is approved in the USA for people aged 12 and over with WHIM syndrome. Each child of an affected person has a 1 in 2 chance of inheriting the change, so genetic counselling is recommended.
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- WHIM syndrome 1
- WHIM syndrome 2
