Subtable 1 Mendelian Susceptibility to mycobacterial disease (MSMD)
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Macrophage gp91 phox deficiency |
CYBB |
XL |
D72 |
|
| IFN-g receptor 1 deficiency |
IFNGR1 |
AR |
D72 |
|
| IFN-g receptor 1 deficiency |
IFNGR1 |
AD |
D72 |
|
| IFN-g receptor 2 deficiency |
IFNGR2 |
AR |
D72 |
|
| IL-12p40 (IL-12 and IL-23) deficiency |
IL12B |
AR |
D72 |
|
| IL-12 and IL-23 receptor b1 chain deficiency |
IL12RB1 |
AR |
D72 |
|
| IL-12Rb2 deficiency |
IL12RB2 |
AR |
|
|
| IL-23R deficiency |
IL23R |
AR |
|
|
| IRF8 deficiency (AD) |
IRF8 |
AD |
D72 |
|
| IRF8 deficiency (AR) |
IRF8 |
AR |
D72 |
|
| ISG15 deficiency |
ISG15 |
AR |
D72 |
|
| JAK1 (LOF) |
JAK1 |
AR |
D72 |
|
| RORgt deficiency |
RORC |
AR |
D72 |
|
| SPPL2a deficiency |
SPPL2A |
AR |
|
|
| STAT1 deficiency (AD LOF) |
STAT1 |
AD LOF |
D72 |
|
| Tyk2 deficiency |
TYK2 |
AR |
D72 |
|
| P1104A TYK2 homozygosity |
TYK2 |
AR |
|
|
| TBX21 deficiency |
TBX21 |
|
D72 |
|
| IFN gamma deficiency |
IFNG |
|
D72 |
|
Subtable 2 Epidermodysplasia verruciformis (HPV)
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| CIB1 deficiency |
CIB1 |
AR |
|
|
| WHIM (Warts, Hypogammaglobulinemia, infections, Myelokathexis) syndrome |
CXCR4 |
AD GOF |
D89.9 |
|
| EVER1 deficiency |
TMC6 |
AR |
D89.9 |
|
| EVER2 deficiency |
TMC8 |
AR |
D89.9 |
|
Subtable 3 Predisposition to Severe Viral Infection
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| CD16 deficiency |
FCGR3A |
AR |
D89.9 |
|
| MDA5 deficiency (LOF) |
IFIH1 |
AR |
D89.9 |
|
| IFNAR1 deficiency |
IFNAR1 |
AR |
|
|
| IFNAR2 deficiency |
IFNAR2 |
AR |
D89.9 |
|
| IRF7 deficiency |
IRF7 |
AR |
D89.9 |
|
| IRF9 deficiency |
IRF9 |
AR |
|
|
| RNA polymerase III deficiency due to POLR3A defects |
POLR3A |
AD |
D89.9 |
|
| RNA polymerase III deficiency due to POLR3C defects |
POLR3C |
AD |
D89.9 |
|
| RNA polymerase III deficiency due to POLR3F defects |
POLR3F |
AD |
D89.9 |
|
| STAT1 deficiency (AR LOF) |
STAT1 |
AR |
D89.9 |
|
| STAT2 deficiency |
STAT2 |
AR |
D89.9 |
|
| ZNFX1 deficiency |
ZNFX1 |
|
|
|
| NOS2 deficiency |
NOS2 |
|
D89.9 |
|
Subtable 4 Herpes Simplex Encephalitis (HSE)
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| DBR1 deficiency |
DBR1 |
AR |
|
|
| IRF3 deficiency |
IRF3 |
AD |
D89.9 |
|
| TBK1 deficiency |
TBK1 |
AD |
D89.9 |
|
| TRIF deficiency |
TICAM1 |
AD |
D89.9 |
|
| TLR3 deficiency |
TLR3 |
AD |
D89.9 |
|
| TLR3 deficiency |
TLR3 |
AR |
D89.9 |
|
| TRAF3 deficiency |
TRAF3 |
AD |
D89.9 |
|
| UNC93B1 deficiency |
UNC93B1 |
AR |
D89.9 |
|
| MAP1LC3B2 |
MAP1LC3B2 |
|
D89.9 |
|
| ATG4A |
ATG4A |
|
D89.9 |
|
| SNORA31 deficiency |
SNORA31 |
|
D89.9 |
|
Subtable 5 Predisposition to invasive fungal infections
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| CARD9 deficiency |
CARD9 |
AR |
D89.9 |
|
Subtable 6 Predisposition to Mucocutaneous Candidiasis
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| IL-17F deficiency |
IL17F |
AD |
D89.9 |
|
| IL-17RA deficiency |
IL17RA |
AR |
D89.9 |
|
| IL-17RC deficiency |
IL17RC |
AR |
D89.9 |
|
| STAT1 GOF |
STAT1 |
AD GOF |
D89.9 |
|
| ACT1 deficiency |
TRAF3IP2 |
AR |
D89.9 |
|
| MAPK8 deficiency |
MAPK8 |
|
D89.9 |
|
Subtable 7 TLR Signaling Pathway Deficiency with Bacterial Susceptibility
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| IRAK1 deficiency |
IRAK1 |
XL |
D89.9 |
|
| IRAK4 deficiency |
IRAK4 |
AR |
D89.9 |
|
| MyD88 deficiency |
MYD88 |
AR |
D89.9 |
|
| TIRAP deficiency |
TIRAP |
AR |
D89.9 |
|
| TLR7 deficiency |
TLR7 |
|
D89.9 |
|
| TLR8 GOF |
TLR8 |
|
|
|
Subtable 8 Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Trypanosomiasis susceptibility |
APOL1 |
AD |
D89.9 |
|
| CLCN7 deficiency associated osteopetrosis |
CLCN7 |
AR |
D89.9 |
|
| Isolated congenital asplenia (ICA) due to HMOX deficiency |
HMOX |
AR |
D89.9 |
|
| Acute liver failure due to NBAS deficiency |
NBAS |
AR |
D89.9 |
|
| NCSTN deficiency hidradenitis suppurativa |
NCSTN |
AD |
D89.9 |
|
| OSTM1 deficiency associated osteopetrosis |
OSTM1 |
AR |
D89.9 |
|
| PLEKHM1 deficiency associated osteopetrosis |
PLEKHM1 |
AR |
D89.9 |
|
| PSEN deficiency hidradenitis suppurativa |
PSEN |
AD |
D89.9 |
|
| PSENEN deficiency hidradenitis suppurativa |
PSENEN |
AD |
D89.9 |
|
| Acute necrotizing encephalopathy |
RANBP2 |
AD |
D89.9 |
|
| Isolated congenital asplenia (ICA) due to RPSA deficiency |
RPSA |
AD |
D89.9 |
|
| SNX10 deficiency associated osteopetrosis |
SNX10 |
AR |
D89.9 |
|
| TCIRG1 deficiency associated osteopetrosis |
TCIRG1 |
AR |
D89.9 |
|
| TNFRSF11A deficiency associated osteopetrosis |
TNFRSF11A |
AR |
D89.9 |
|
| TNFSF11 deficiency associated osteopetrosis |
TNFSF11 |
AR |
D89.9 |
|
Subtable 9 Other inborn errors of immunity related to leukocytes
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| IL-18BP deficiency |
IL18BP |
AR |
D89.9 |
|
| IRF4 haplo-insufficiency |
IRF4 |
AD |
D89.9 |
|
| |
|
|
|
|
