Subtable 1 Type 1 Interferonopathies
|
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Spondyloenchondro-dysplasia with immune dysregulation (SPENCD) |
ACP5 |
AR |
D89.9 |
|
| ADA2 deficiency |
ADA2 |
AR |
D89.9 |
|
| ADAR1 deficiency, AGS6 |
ADAR1 |
AR |
D89.9 |
|
| DNASE1L3 deficiency |
DNASE1L3 |
AR |
D81.8 |
|
| DNASE2 deficiency |
DNASE2 |
AR |
D89.9 |
|
| Aicardi-Goutieres syndrome 7 (AGS7) |
IFIH1 (GOF) |
AD |
D89.9 |
|
| OAS1 GOF |
OAS1 |
AD GOF |
D89.9 |
|
| RNASEH2A deficiency, AGS4 |
RNASEH2A |
AR |
D89.9 |
|
| RNASEH2B deficiency, AGS2 |
RNASEH2B |
AR |
D89.9 |
|
| RNASEH2C deficiency, AGS3 |
RNASEH2C |
AR |
D89.9 |
|
| SAMHD1 deficiency, AGS5 |
SAMHD1 |
AR |
D89.9 |
|
| STING--associated vasculopathy, infantile-onset |
TMEM173 |
AR |
D89.9 |
|
| TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1) |
TREX1 |
AR or AD |
D89.9 |
|
| USP18 deficiency |
USP18 |
AR |
D89.9 |
|
| ATAD3A deficiency |
ATAD3A |
|
|
|
| CDC42 defects |
CDC42 |
|
D89.9 |
|
| LSM11 deficiency |
LSM11 |
|
D89.9 |
|
| STING-like disease |
TMEM173 |
|
|
|
| C2orf69 deficiency |
C2orf69 |
|
|
|
| RNU7-1 deficiency |
RNU7-1 |
|
D89.9 |
|
| STAT2 R148 LOF/regulation (prevents binding to USP18) |
STAT2 |
|
D89.9 |
|
Subtable 2 Defects Affecting the Inflammasome
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Familial Mediterranean fever |
MEFV |
AR |
M04.1 |
|
| Familial Mediterranean fever |
MEFV |
AD |
M04.1 |
|
| Mevalonate kinase deficiency (Hyper IgD syndrome) |
MVK |
AR |
M04.1 |
|
| NLRC4-MAS (macrophage activating syndrome) or familial cold autoinflammatory syndrome 4 |
NLRC4 |
AD GOF |
M04.2 |
|
| NLRP1 deficiency |
NLRP1 |
AR |
M04.8 |
|
| NLRP1 GOF |
NLRP1 |
AD GOF |
|
|
| Familial cold autoinflammatory syndrome 2 |
NLRP12 |
AD GOF |
M04.2 |
|
| Familial cold autoinflammatory syndrome 1 |
NLRP3 |
AD GOF |
M04.2 |
|
| Neonatal onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous and articular syndrome (CINCA) |
NLRP3 |
AD GOF |
M04.2 |
|
| Muckle-Wells syndrome |
NLRP3 |
AD GOF |
M04.1 |
|
| PLAID (PLCg2 associated antibody deficiency and immune dysregulation) or familial cold autoinflammatory syndrome 3 or APLAID (c2120A>C) |
PLCG2 |
AD GOF |
M04.8 |
|
| RIPK1 deficiency |
RIPK1 |
|
|
|
Subtable 3 Non-Inflammasome Related Conditions
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| ADAM17 deficiency |
ADAM17 |
AR |
M04.8 |
|
| ALPI deficiency |
ALPI |
AR |
K52.3 |
|
| AP1S3 deficiency |
AP1S3 |
AR |
M04.8 |
|
| CAMPS (CARD14 mediated psoriasis) |
CARD14 |
AD |
M04.8 |
|
| COPA defect |
COPA |
AD |
M04.8 |
|
| Tim-3 deficiency |
HAVCR2 |
AR |
C86.3 |
|
| DIRA (Deficiency of the Interleukin 1 Receptor Antagonist) |
IL1RN |
AR |
M04.8 |
|
| DITRA (Deficiency of IL-36 receptor antagonist) |
IL36RN |
AR |
M04.8 |
|
| Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome) |
LPIN2 |
AR |
M04.8 |
|
| Blau syndrome |
NOD2 |
AD |
M04.8 |
|
| Otulipenia/ORAS |
OTULIN |
AR |
M04.8 |
|
| CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy) |
PSMB8* |
AR |
L98.2 |
|
| CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy) |
PSMB8* |
AD |
L98.2 |
|
| CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy) |
PSMG2 |
AR |
L98.2 |
|
| Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, hyperzincemia and hypercalprotectinemia |
PSTPIP1 |
AD |
M04.8 |
|
| Cherubism |
SH3BP2 |
AD |
M04.8 |
|
| Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome SLC29A3 mutation |
SLC29A3 |
AR |
M04.8 |
|
| A20 deficiency |
TNFAIP3 |
AD LOF |
M04.8 |
|
| TNF receptor-associated periodic syndrome (TRAPS) |
TNFRSF1A |
AD |
M04.8 |
|
| TRIM22 |
TRIM22 |
AR |
K52.3 |
|
| HCK disease |
HCK |
|
|
|
| HEM1 (NCKAPIL) deficiency |
NCKAPIL |
|
K52.3 |
|
| PRAAS -like condition |
PSMB9 |
|
|
|
| TBK1 disorder |
TBK1 |
|
M04.8 |
|
| NEMO-NDAS |
IKBKG |
|
M04.8 |
|
| SYK disease |
SYK |
|
|
|
Tilläggsdiagnoser till PIDcare
|
|
|
|
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| PFAPA |
|
|
|
|
| Autoinflammatory disorder of unknown genetic origin |
| |
