Publicerad: 2024-05-13

Table 5 Congenital defects of phagocyte number or function

Subtable 1 Congenital Neutropenias
Subtable 2 Defects of Motility
Subtable 3 Defects of Respiratory Burst
Subtable 4 Other Non-Lymphoid Defects

Subtable 1 Congenital Neutropenias
Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
Specific granule deficiency	CEBPE	AR	D71
3-Methylglutaconic aciduria	CLPB	AR	D70.0
G-CSF receptor deficiency	CSF3R	AR	D70.0
Shwachman Diamond syndrome due to DNAJC21 deficiency	DNAJC21	AR	D71
Schwachman Diamond syndrome due to EFL1 deficiency	EFL1	AR	D71
Elastase deficiency (SCN1)	ELANE	AD	D70.0
G6PC3 deficiency (SCN4)	G6PC3	AR	D70.0
Glycogen storage disease type 1b	G6PT1	AR	D70.0
GFI 1 deficiency (SCN2)	GFI1	AD	D70.0
HAX1 deficiency (Kostmann Disease) (SCN3)	HAX1	AR	D70.0
HYOU1 deficiency	HYOU1	AR	D70.0
JAGN1 deficiency	JAGN1	AR	D70.0
P14/LAMTOR2 deficiency	LAMTOR2	AR	D70.0
Shwachman-Diamond Syndrome due to SBSD deficiency	SBDS	AR	D71
SMARCD2 deficiency	SMARCD2	AR	D70.0
SRP54 deficiency	SRP54	AD
Barth Syndrome, (3-Methylglutaconic aciduria type II)	TAZ	XL	D70.0
Clericuzio syndrome (Poikiloderma with neutropenia)	USB1	AR	D70.0
Cohen syndrome	VPS13B	AR	D70.0
VPS45 deficiency (SCN5)	VPS45	AR	D70.0
X-linked neutropenia/ myelodysplasia WAS GOF	WAS	XL GOF	D70.0
CXCR2 deficiency	CXCR2
Subtable 2 Defects of Motility
Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
b actin deficiency	ACTB	AD	D71
Cystic fibrosis	CFTR	AR	D71
Papillon-Lefèvre Syndrome	CTSC	AR	D71
Leukocyte adhesion deficiency type 3 (LAD3)	FERMT3	AR	D71
Localized juvenile periodontitis	FPR1	AR	D71
Leukocyte adhesion deficiency type 1 (LAD1)	ITGB2	AR	D84.0
Neutropenia with combined immune deficiency due to MKL1 deficiency	MKL1	AR	D71
Rac 2 deficiency	RAC2	AD LOF	D71
Leukocyte adhesion deficiency type 2 (LAD2)	SLC35C1	AR	D71
WDR1 deficiency (Lazy leukocyte)	WDR1	AR	D71
Subtable 3 Defects of Respiratory Burst
Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
Autosomal recessive CGD p22phox	CYBA	AR	D71
X-linked chronic granulomatous disease (CGD), gp91phox	CYBB	XL	D71
Autosomal recessive CGD p47phox	NCF1	AR	D71
Autosomal recessive CGD p67phox	NCF2	AR	D71
Autosomal recessive CGD p40phox	NCF4	AR	D71
Autosomal recessive CGD EROS	CYBC1	AR
G6PD deficiency Class I	G6PD	XL	D71
Subtable 4 Other Non-Lymphoid Defects
Disease	Genetic defect	Inheri-tance	ICD10	SLIPI:s riktlinjer
GATA2 deficiency (MonoMac syndrome)	GATA2	AD	D72.818
Congenital pulmonary alveolar proteinosis due to CSF2RA mutations	CSF2RA	XL
Congenital pulmonary alveolar proteinosis due to CSF2RB mutations	CSF2RB	AR

Till Diagnoser - Major Categories

Table 5 Congenital defects of phagocyte number or function

Subtable 1 Congenital Neutropenias

Subtable 2 Defects of Motility

Subtable 3 Defects of Respiratory Burst

Subtable 4 Other Non-Lymphoid Defects