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Publicerad: 2024-05-13

Table 4 Diseases of Immune Dysregulation

  • Subtable 1 Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
  • Subtable 2 FHL Syndromes with Hypopigmentation
  • Subtable 3 Regulatory T Cell Defects
  • Subtable 4 Autoimmunity with or without Lymphoproliferation
  • Subtable 5 Immune Dysregulation with Colitis
  • Subtable 6 Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)
  • Subtable 7 Susceptibility to EBV and Lymphoproliferative Conditions

 Subtable 1 Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
FAAP24 deficiency FAAP24 AR    
Perforin deficiency (FHL2) PRF1 AR    
Lysinuric protein intolerance SLC7A7 deficiency SLC7A7 AR     
Syntaxin 11 deficiency (FHL4)  STX11 AR    
STXBP2 / Munc18-2 deficiency (FHL5) STXBP2 AR or AD    
UNC13D / Munc13-4 deficiency (FHL3) UNC13D AR    
RHOG deficiency RHOG      

Subtable 2 FHL Syndromes with Hypopigmentation
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
Hermansky-Pudlak syndrome, type 2 AP3B1  AR D76.1  
Hermansky-Pudlak syndrome, type 10 AP3D1 AR D76.1  
Chediak-Higashi syndrome LYST AR D76.1  
Griscelli syndrome, type 2 RAB27A  AR D76.1  
CEBPE neofunction CEBPE      

Subtable 3 Regulatory T Cell Defects

  
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
BACH2 deficiency BACH2 AD D81.8  
CTLA4 deficiency (ALPSV) CTLA4 AD D81.8  
DEF6 deficiency DEF6 AR     
FERMT1 deficiency (Kindler syndrome) FERMT1 AR    
IPEX, immune dysregulation, polyendocrinopathy, enteropathy X-linked FOXP3 XL D82.9  
CD25 deficiency IL2RA AR D81.8  
CD122 deficiency IL2RB AR     
LRBA deficiency LRBA AR D81.8  
STAT3 GOF mutation STAT3 AD (GOF) D81.8  
IKZF1 GOF IKZF1   D81.8  

Subtable 4 Autoimmunity with or without Lymphoproliferation
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
APECED (APS-1),  autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy AIRE AR  D81.8  
APECED (APS-1),  autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy AIRE AD  D81.8  
ITCH deficiency ITCH AR D81.8  
JAK1 GOF JAK1 AD GOF D81.8  
Prolidase deficiency PEPD AR D81.8  
Tripeptidyl-Peptidase II Deficiency TPP2  AR D81.8  
PD1 deficiency PDCD1      
SOCS1 deficiency SOCS1   D81.8  

Subtable 5 Immune Dysregulation with Colitis
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
IL-10 deficiency IL10  AR D82.8  
IL-10Ra deficiency IL10RA  AR D82.8  
IL-10Rb deficiency IL10RB  AR D82.8  
NFAT5 haploinsufficiency NFAT5 AD D82.8  
RIPK1 deficiency RIPK1 AR D82.8  
TGFB1 deficiency TGFB1 AR D82.8  
ELF4 deficiency ELF4      

Subtable 6 Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
ALPS-Caspase10 CASP10 AD D89.82  
ALPS-Caspase 8 CASP8 AR D89.82  
FADD deficiency FADD  AR D89.82  
ALPS-FAS TNFRSF6  AD or AR D89.82  
ALPS-FASLG TNFSF6  AR D89.82  

Subtable 7 Susceptibility to EBV and Lymphoproliferative Conditions
Disease Genetic defect Inheri-tance ICD10 SLIPI:s riktlinjer
RLTPR (CARMIL2) deficiency CARMIL2 AR D82.3  
CD27 deficiency CD27  AR D82.3  
CD70 deficiency CD70  AR D82.3  
CTPS1 deficiency CTPS1 AR D82.3  
MAGT1 deficiency (XMEN) MAGT1 XL D82.3  
PRKCD deficiency PRKCD AR D82.3  
RASGRP1 deficiency RASGRP1 AR D82.3  
SH2D1A (SAP) deficiency (XLP1) SH2D1A  XL D82.3  
CD137 deficiency (41BB) TNFRSF9 AR    
XIAP deficiency (XLP2) XIAP  XL D82.3  
TET2 deficiency TET2   D82.3  
         

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