Publicerad: 2022-06-12

Table 8 Complement Deficiencies

Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
C1q deficiency due to defects in C1QA	C1QA	AR	D84.1
C1q deficiency due to defects in C1QB	C1QB	AR	D84.1
C1q deficiency due to defects in C1QC	C1QC	AR	D84.1
C1r deficiency	C1R	AR	D84.1
C1r Periodontal Ehlers Danlos	C1R	AD GOF	D84.1
C1s deficiency	C1S	AR	D84.1
C1s Periodontal Ehlers Danlos	C1S	AD GOF	D84.1
C2 deficiency	C2	AR	D84.1
C3 deficiency (LOF)	C3	AR	D84.1
C3 GOF	C3	AD GOF	D84.1
Complete C4 deficiency	C4A+C4B	AR	D84.1
C5 deficiency	C5	AR	D84.1
C6 deficiency	C6	AR	D84.1
C7 deficiency	C7	AR	D84.1
C8a deficiency	C8A	AR	D84.1
C8b deficiency	C8B	AR	D84.1
C8g deficiency	C8G	AR	D84.1
C9 deficiency	C9	AR	D84.1
Membrane Cofactor Protein (CD46) deficiency	CD46	AD	D84.1
CD55 deficiency (CHAPEL disease)	CD55	AR	D84.1
Membrane Attack Complex Inhibitor (CD59) deficiency	CD59	AR	D84.1
Factor B GOF	CFB	AD GOF	D84.1
Factor B LOF	CFB	AR	D84.1
Factor D deficiency	CFD	AR	D84.1
Factor H deficiency	CFH	AR	D84.1
Factor H deficiency	CFH	AD	D84.1
Factor H –related protein deficiencies	CFHR1 CFHR2. CFHR3 CFHR4 CFHR5	AR	D84.1
Factor H –related protein deficiencies	CFHR1 CFHR2. CFHR3 CFHR4 CFHR5	AD	D84.1
Factor I deficiency	CFI	AR	D84.1
Properdin deficiency	CFP	XL	D84.1
Ficolin 3 deficiency	FCN3	AR	D84.1
MASP2 deficiency	MASP2	AR	D84.1
C1 inhibitor deficiency	SERPING1	AD	D84.1
C1 inhibitor deficiency (HAE)
C1 inhibitor deficiency (HAE II)
MBL deficiency
Thrombomodulin deficiency	THBD	AD	D84.1