Immunodeficienze con immunodisregolazione, Difetti del complemento, Sindromi con IperIgE (129 geni)

ACP5

CTPS1

PGM3

ZNF341

ADAM17

DEF6

PLCG2

 

ADAR

DNASE1L3

POLA1

 

AIRE

DNASE2

PRF1

 

ALPI

DOCK8

PRKCD

 

AP1S3

ERBB2IP (ERBIN)

PSMB8

 

AP3B1

FAAP24

PSMG2

 

AP3D1

FADD

PSTPIP1

 

BACH2

FASLG

RAB27A

 

C1QA

FCN3

RASGRP1

 

C1QB

FERMT1

RIPK1

 

C1QC

FOXP3

RLTPR (CARMIL2)

 

C1R

HAVCR2

RNASEH2A

 

C1S

IFIH1

RNASEH2B

 

C2

IL10

RNASEH2C

 

C3

IL10RA

SAMHD1

 

C4A+C4B

IL10RB

SERPING1

 

C5

IL1RN

SH2D1A

 

C6

IL2RA

SH3BP2

 

C7

IL2RB

SLC29A3

 

C8A

IL36RN

SLC7A7

 

C8B

IL6R

SPINK5

 

C8G

IL6ST

STAT3

 

C9

ITCH

STK4

 

CARD11

ITK

STX11

 

CARD14

JAK1

STXBP2

 

CASP10

LPIN2

TGFB1

 

CASP8

LRBA

TGFBR1

 

CD27

LYST

TGFBR2

 

CD46

MAGT1

THBD

 

CD55

MASP2

TMEM173

 

CD59

MEFV

TNFAIP3

 

CD70 (TNFSF7)

MVK

TNFRSF1A

 

CECR1

NFAT5

TNFRSF6  (FAS)

 

CFB

NLRC4

TNFRSF9

 

CFD

NLRP1

TPP2

 

CFH

NLRP12

TREX1

 

CFHR1-5

NLRP3

TRIM22

 

CFI

NOD2

UNC13D

 

CFP

OAS1

USP18

 

COPA

OTULIN

XIAP

 

CTLA4

PEPD

ZAP70