Publicerad: 2022-09-27
Table 2 Combined immunodeficiencies with associated or syndromic features
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Subtable 1 Immunodeficiency with Congenital Thrombocytopenia |
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| Disease | Genetic defect | Inheri-tance | ICD10 | SLIPI:s riktlinjer |
| ARPC1B deficiency | ARPC1B | AR | D81.9 | |
| Wiskott-Aldrich syndrome (WAS LOF) | WAS | XL | D82.0 | |
| WIP deficiency | WIPF1 | AR | D81.9 | |
Subtable 2 DNA Repair Defects other than those listed in Table 1 |
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| Disease | Genetic defect | Inheri-tance | ICD10 | SLIPI:s riktlinjer |
| Ataxia-telangiectasia | ATM | AR | D81.9 | |
| Bloom Syndrome | BLM (RECQL3) | AR | D81.9 | |
| Immunodeficiency with centromeric instability and facial anomalies, ICF3 | CDCA7 | AR | D81.9 | |
| Immunodeficiency with centromeric instability and facial anomalies, ICF1 | DNMT3B | AR | D81.9 | |
| GINS1 deficiency | GINS1 | AR | D81.9 | |
| Immunodeficiency with centromeric instability and facial anomalies, ICF4 | HELLS | AR | D81.9 | |
| Ligase I deficiency | LIG1 | AR | D81.9 | |
| MCM4 deficiency | MCM4 | AR | D81.9 | |
| Nijmegen breakage syndrome | NBS1 | AR | D81.9 | |
| NSMCE3 deficiency | NSMCE3 | AR | D81.9 | |
| PMS2 Deficiency | PMS2 | AR | D81.9 | |
| POLE1 (Polymerase ε subunit 1) deficiency (FILS syndrome) | POLE1 | AR | D81.9 | |
| POLE2 (Polymerase ε subunit 2) deficiency | POLE2 | AR | D81.9 | |
| RNF168 deficiency (Radiosensitivity, Immune Deficiency, Dysmorphic features, Learning difficulties [RIDDLE] Syndrome) | RNF168 | AR | D81.9 | |
| Immunodeficiency with centromeric instability and facial anomalies, ICF2 | ZBTB24 | AR | D81.9 | |
| X-linked reticulate pigmentary disorder-POLA1 | POLA1 | XL | D81.9 | |
Subtable 3 Thymic Defects with Additional Congenital Anomalies |
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| Disease | Genetic defect | Inheri-tance | ICD10 | SLIPI:s riktlinjer |
| Chromosome 11q deletion syndrome (Jacobsen syndrome) | 11q23del | AD | D81.9 | |
| CHARGE syndrome due to CHD7 deficiency | CHD7 | AD | D81.9 | |
| Chromosome 10p13-p14 deletion Syndrome (10p13-p14DS) | Del10p13-p14 | AD | D81.9 | |
| Winged helix FOXN1 deficiency (Nude SCID) | FOXN1 | AR | D81.9 | |
| FOXN1 Haplosufficiency | FOXN1 | AD | D81.9 | |
| Chromosome 22q11.2 deletion Syndrome (22q11.2DS) (AKA DiGeorge/velocardiofacial syndrome) | Large (3Mb) deletion | AD | D82.1 | |
| CHARGE syndrome due to SEMA3E deficiency | SEMA3E | AD | D81.9 | |
| TBX1 deficiency | TBX1 | AD | D82.1 | |
| CHARGE syndrome | Unknown / environment | D81.9 | ||
Subtable 4 Immuno-osseous Dysplasias |
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| Disease | Genetic defect | Inheri-tance | ICD10 | SLIPI:s riktlinjer |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3 Deficiency) | EXTL3 | AR | D81.9 | |
| MYSM1 deficiency | MYSM1 | AR | D81.9 | |
| Cartilage hair hypoplasia (CHH) | RMRP | AR | D82.2 | |
| MOPD1 deficiency (Roifman syndrome) | RNU4ATAC | AR | D81.9 | |
| Schimke Immuno-osseous Dysplasia | SMARCAL1 | AR | D81.9 | |
Subtable 5 Hyper IgE Syndromes (HIES) |
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| Disease | Genetic defect | Inheri-tance | ICD10 | SLIPI:s riktlinjer |
| CARD11 DN LOF | CARD11 | AD LOF | D82.4 | |
| ERBIN deficiency | ERBB21P | AD | D82.4 | |
| IL6 receptor deficiency | IL6R | AR | D82.4 | |
| IL6 signal transducer (IL6ST) deficiency | IL6ST | AR | D82.4 | |
| PGM3 deficiency | PGM3 | AR | D82.4 | |
| Comel-Netherton syndrome | SPINK5 | AR | D82.4 | |
| AD-HIES Job syndrome | STAT3 | AD LOF | D82.4 | |
| Loeys Dietz syndrome due to TGFBR1 deficiency | TGFBR1 | AD | D82.4 | |
| Loeys Dietz syndrome due to TGFBR2 deficiency | TGFBR2 | AD | D82.4 | |
| ZNF341 deficiency AR-HIES | ZNF341 | AR | D82.4 | |
Subtable 6 Defects of Vitamin B12 and Folate Metabolism |
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| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency | MTHFD1 | AR | D81.9 | |
| SLC46A1/PCFT deficiency causing hereditary folate malabsorbtion | SLC46A1 | AR | D81.9 | |
| Transcobalamin 2 deficiency | TCN2 | AR | D81.9 | |
Subtable 7 Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID) |
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| Disease | Genetic defect |
Inheri-tance |
ICD10 | SLIPI:s riktlinjer |
| EDA-ID due to IKBKB GOF mutation | IKBKB | AD GOF | ||
| EDA-ID due to NEMO /IKBKG deficiency (ectodermal dysplasia, immune deficiency) | IKBKG | XL | D81.9 | |
| EDA-ID due to IKBA GOF | NFKBIA | AD GOF | D81.9 | |
Subtable 8 Calcium Channel Defects |
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| Disease | Genetic defect | Inheri-tance | ICD10 | SLIPI:s riktlinjer |
| ORAI-1 deficiency | ORAI1 | AR | D81.9 | |
| STIM1 deficiency | STIM1 | AR | D81.9 | |
Subtable 9 Other Combined immunodeficiencies with syndromic features |
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| Disease | Genetic defect | Inheri-tance | ICD10 | SLIPI:s riktlinjer |
| BCL11B deficiency | BCL11B | AD | D81.9 | |
| Hennekam-lymphangiectasia-lymphedema syndrome due to CCBE1 deficiency | CCBE1 | AR | D81.9 | |
| Vici syndrome due to EPG5 deficiency | EPG5 | AR | D81.9 | |
| Hennekam-lymphangiectasia-lymphedema syndrome due to FAT4 deficiency | FAT4 | AR | D81.9 | |
| Kabuki Syndrome 2 due to KDM6A deficiency | KDM6A | XL (females may be affected) | D81.9 | |
| Widemann-Steiner syndrome | KMT2A | AD | ||
| Kabuki Syndrome 1 due to KMT2D deficiency | KMT2D (MLL2) | AD | D81.9 | |
| NFE2L2 GOF | NFE2L2 | AD | D81.9 | |
| Purine nucleoside phosphorylase (PNP) deficiency | PNP | AR | D81.9 | |
| HOIL1 deficiency | RBCK1 | AR | D81.9 | |
| HOIP deficiency | RNF31 | AR | D81.9 | |
| Tricho-hepato-enteric syndrome due to SKIV2L mutations | SKIV2L | AR | D81.9 | |
| Hepatic veno-occlusive disease with immunodeficiency (VODI) | SP110 | AR | D81.9 | |
| STAT5b deficiency | STAT5B | AR | D81.9 | |
| STAT5b deficiency | STAT5B | AD DN | D81.9 | |
| Tricho-hepato-enteric syndrome due to TTC37 mutations | TTC37 | AR | D81.9 | |
| Immunodeficiency with multiple intestinal atresias | TTC7A | AR | D81.9 | |