Complement Deficiency Diseases
Presentation
Entire Body System
- Multiple Congenital Anomalies
congenital anomalies-hypotonia-seizures syndrome XL 24 27 PTX3 Complement system AD/AR 1 RSPH1 Ciliary dyskinesia AR 14 10 RSPH4A Ciliary dyskinesia AR 18 24 RSPH9 Ciliary dyskinesia AR 8 12 SERPING1 Angioedema, Complement component 4, partial deficiency [blueprintgenetics.com]
- Hypothermia
Initially, patient was tachycardic, afebrile and normotensive, but in a matter of hours she became hemodynamically unstable with profound hypotension, hypoxia, hypothermia and obtundation. Skin had a macular and petechial rash. [shmabstracts.com]