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Publicerad: 2024-05-13

Table 1 Immunodeficiencies affecting cellular and humoral immunity

  • Subtable 1 T-B+ SCID
  • Subtable 2 T-B- SCID
  • Subtable 3 Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency

Subtable 1 T-B+ SCID

        
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
CD3e deficiency CD3E  AR D81.2  
CD3z deficiency  CD3Z AR D81.2  
Coronin-1A deficiency CORO1A  AR D81.2  
gc deficiency (common gamma chain SCID, CD132 deficiency) IL2RG XL D81.2  
IL7Ra deficiency IL7R AR D81.2  
JAK3 deficiency JAK3 AR D81.2  
LAT deficiency LAT AR D81.2  
CD45 deficiency PTPRC AR D81.2  
PAX1 deficiency PAX1   D81.2  
SLP76 deficiency SLP76   D81.2  
ITPKB deficiency ITPKB   D81.2  

Subtable 2 T-B- SCID

      
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
Adenosine deaminase (ADA) deficiency ADA AR D81.3  
Reticular dysgenesis AK2 AR D81.0  
DCLRE1C (Artemis) deficiency DCLRE1C AR D81.1  
DNA ligase IV deficiency LIG4  AR D81.1  
Cernunnos/XLF deficiency NHEJ1 AR D81.1  
DNA PKcs deficiency PRKDC  AR D81.1  
Activated RAC2 defect RAC2 AD GOF D81.0  
RAG1 deficiency RAG1 AR D81.1  
RAG2 deficiency RAG2 AR D81.1  

Subtable 3 Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency

  
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
MHC class I deficiency  B2M  AR D81.6  
BCL10 deficiency BCL10  AR D81.9  
CARD11 deficiency (LOF) CARD11  AR D81.9  
CD3g deficiency CD3G  AR D81.9  
CD40 deficiency CD40 (TNFRSF5)  AR D80.5  
CD40 ligand deficiency (CD154) CD40LG (TNFSF5) XL D80.5  
CD8 deficiency CD8A  AR D81.9  
MHC class II deficiency group A  CIITA   AR D81.7  
DOCK2 deficiency DOCK2  AR D81.9  
DOCK8 deficiency  DOCK8  AR D81.9  
FCHO1 deficiency FCHO1 AR D81.9  
ICOS deficiency ICOS AR D81.9  
ICOLG deficiency ICOSLG AR    
IKBKB deficiency IKBKB AR D81.9  
Ikaros deficiency IKZF1 AD DN    
IL-21 deficiency IL21  AR D81.9  
IL-21R deficiency IL21R  AR D81.9  
ITK deficiency ITK  AR D82.3  
LCK deficiency LCK  AR D81.9  
MALT1 deficiency MALT1  AR D81.9  
NIK deficiency MAP3K14 AR D81.9  
Moesin deficiency MSN XL D81.9  
Polymerase d 1 deficiency POLD1 AR    
Polymerase d 2 deficiency POLD2 AR     
c-Rel deficiency REL AR D81.9  
RelA haplosufficiency RELA AD D81.9  
RelB deficiency RELB AR D81.9  
MHC class II deficiency group C  RFX5 AR D81.7  
MHC class II deficiency group B  RFXANK  AR D81.7  
MHC class II deficiency group D  RFXAP  AR D81.7  
Rhoh Deficiency RHOH  AR D81.9  
MST1 deficiency STK4  AR D81.9  
MHC class I deficiency  TAP1 AR D81.6  
MHC class I deficiency TAP2   AR D81.6  
MHC class I deficiency  TAPBP  AR D81.6  
TFRC deficiency TFRC AR D81.9  
OX40 deficiency TNFRSF4 AR D81.9  
TCRα deficiency TRAC  AR D81.9  
ZAP-70 deficiency (ZAP70 LOF) ZAP70  AR D81.9  
ZAP70 combined hypomorphic GOF ZAP70  AR LOF/GOF D81.9  
MAN2B2 deficiency MAN2B2   D81.9  
SASH3 deficiency SASH3      
CHUK deficiency CHUK      
IKK alfa deficiency IKZF2      
COPG1 deficiency COPG1      

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