Subtable 1 Agammaglobulinemia
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|
|
|
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| BLNK deficiency |
BLNK |
AR |
D80.0 |
|
| BTK deficiency, X-linked agammaglobulinemia (XLA) |
BTK |
XL |
D80.0 |
|
| Igα deficiency (IgAlfa) |
CD79A |
AR |
D80.0 |
|
| Igβ deficiency |
CD79B |
AR |
D80.0 |
|
| m heavy chain deficiency |
IGHM |
AR |
D80.0 |
|
| l5 deficiency |
IGLL1 |
AR |
D80.0 |
|
| PIK3CD deficiency |
PIK3CD |
AR |
|
|
| PIK3R1 deficiency |
PIK3R1 |
AR |
D80.0 |
|
| SLC39A7 (ZIP7) deficiency |
SLC39A7 |
AR |
|
|
| E47 transcription factor deficiency |
TCF3 |
AD |
D80.0 |
|
| E47 transcription factor deficiency |
TCF3 |
AR |
|
|
| Hoffman syndrome/TOP2B deficiency |
TOP2B |
AD |
|
|
| FNIP1 deficiency |
FNIP1 |
|
D80.0 |
|
| Pu.1 deficiency |
SPI1 |
|
|
|
Subtable 2 CVID Phenotype
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|
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Common variable immune deficiency with no gene defect specified (CVID) |
Unknown |
Variable |
D83.9 |
|
| ARHGEF1 deficiency |
ARHGEF1 |
AR |
|
|
| ATP6AP1 deficiency |
ATP6AP1 |
XL |
D83.9 |
|
| CD19 deficiency |
CD19 |
AR |
D83.9 |
|
| CD20 deficiency |
CD20 |
AR |
D83.9 |
|
| CD21 deficiency |
CD21 |
AR |
D83.9 |
|
| CD81 deficiency |
CD81 |
AR |
D83.9 |
|
| IKAROS haplosufficiency |
IKZF1 |
AD |
D83.9 |
|
| IRF2BP2 deficiency |
IRF2BP2 |
AD |
D83.9 |
|
| Mannosyl-oligosaccharide glucosidase deficiency (MOGS) |
MOGS (GCS1) |
AR |
|
|
| NFKB1 deficiency |
NFKB1 |
AD |
D83.9 |
|
| NFKB2 deficiency |
NFKB2 |
AD |
D83.9 |
|
| PIK3CD mutation (GOF) APDS1 |
PIK3CD GOF |
AD |
D83.9 |
|
| PIK3R1 deficiency (LOF) APDS2 |
PIK3R1 |
AD |
D83.9 |
|
| PTEN Deficiency (LOF) |
PTEN |
AD |
D83.9 |
|
| RAC2 deficiency |
RAC2 |
AR |
|
|
| SEC61A1 deficiency |
SEC61A1 |
AD |
|
|
| SH3KBP1 (CIN85) deficiency |
SH3KBP1 |
XL |
|
|
| TACI deficiency |
TNFRSF13B |
AD or AR |
D83.9 |
|
| BAFF receptor deficiency |
TNFRSF13C |
AR |
D83.9 |
|
| TWEAK deficiency |
TNFSF12 |
AD |
D83.9 |
|
| TRNT1 deficiency |
TRNT1 |
AR |
D83.9 |
|
| PIK3CG deficiency |
PIK3CG |
|
D83.9 |
|
| POU2AF1 deficiency |
POU2AF1 |
|
|
|
Subtable 3 Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| AID deficiency |
AICDA |
AR |
D80.5 |
|
| INO80 |
INO80 |
AR |
D80.5 |
|
| MSH6 |
MSH6 |
AR |
D80.5 |
|
| UNG deficiency |
UNG |
AR |
D80.5 |
|
| CTNNBL1 deficiency |
CTNNBL1 |
|
D80.5 |
|
| TNFSF13 (APRIL) deficiency |
TNFSF13 |
|
D80.5 |
|
Subtable 4 Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells
|
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Isolated IgG subclass deficiency |
Unknown |
? |
D80.3 |
|
| IgG subclass deficiency with IgA deficiency |
Unknown |
? |
D80.3 |
|
| Selective IgA deficiency |
Unknown |
? |
D80.2 |
|
| IgA deficiency with decreased IgG (CVID, IgG subclass deficiency and IgA-deficiency) |
|
| IgG subclass deficiency with decreased IgA (excludes IgA deficiency) |
|
| Decreased IgA (excludes IgA deficiency) |
|
| Decreased IgG (excludes CVID and IgG subclass deficiency) |
|
| Decreased IgG with decreased IgA (excludes CVID, IgG subclass deficiency and IgA-deficiency) |
|
| Specific antibody deficiency with normal Ig levels and normal B cells |
Unknown |
? |
D80.6 |
|
| Transient hypogammaglobuliemia of infancy |
Unknown |
? |
D80.7 |
|
| Selective IgM deficiency |
Unknown |
? |
D80.4 |
|
| CARD11 GOF |
CARD11 |
AD GOF |
D80.9 |
|
| Kappa chain deficiency |
IGKC |
AR |
D80.3 |
|
| Ig heavy chain mutations and deletions |
Mutation or chromosomal deletion at 14q32 |
AR |
D80.3 |
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