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Publicerad: 2022-06-12

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  

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    
         

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