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JACI-D-23-00956-Figure 4
12/27/2023
Your Diagram Title
Directed or undirected cell depletion, function or proliferation inhibition → MMF (mycophenolate mofetil): 3
Anti-inflammatory drugs → Anti-IL-(interleukin-)12/-23/-IL-17/-18-directed therapies: 3
Directed or undirected cell depletion, function or proliferation inhibition → Glucocorticosteroids: 2
Directed or undirected cell depletion, function or proliferation inhibition → Rituximab: 2
Checkpoint / Treg augmentation → Abatacept, belatacept: 2
Checkpoint / Treg augmentation → Rapamycin: 2
Directed signaling pathway inhibition → Rapamycin: 2
Directed signaling pathway inhibition → Ruxolitinib, baricitinib, tofacitinib: 2
Anti-inflammatory drugs → Glucocorticosteroids: 2
TCR-signalosome insufficiency → LAT: 1
TCR-signalosome insufficiency → SLP76: 1
V(D)J-recombination insufficiency → RAG1,2: 1
V(D)J-recombination insufficiency → DCLRE1C: 1
V(D)J-recombination insufficiency → PRKCD: 1
AIRE-expression insufficiency → PRKCD: 1
V(D)J-recombination insufficiency → NHEJ1: 1
V(D)J-recombination insufficiency → LIG4: 1
Purine metabolism insufficiency → ADA: 1
CD40:CD40L-signaling insufficiency → CD40LG: 1
T:B-cell co-signaling insufficiency → CD40LG: 1
ICOS:ICOSL-signaling insufficiency → ICOS: 1
T:B-cell co-signaling insufficiency → ICOS: 1
TCR-complex insufficiency → CD3G: 1
TCR-signalosome insufficiency → ZAP70: 1
TCR-signalosome insufficiency → ZAP70/HM-GOF: 1
Transcription factor insufficiency → IKZF2: 1
Actin-cytoskeleton insufficiency → DOCK8: 1
Hippo-signaling insufficiency → STK4: 1
TCR-complex insufficiency → TRAC: 1
TCR-signalosome insufficiency → LCK: 1
TCR-signalosome insufficiency → ITK: 1
CBM-signalosome insufficiency → MALT1: 1
CBM-signalosome insufficiency → CARD11: 1
NFKB1-signaling imbalance → IKBKB-LOF: 1
NFKB1-signaling imbalance → IKBKB-GOF: 1
NFKB2-signaling imbalance → CHUK: 1
AIRE-expression insufficiency → CHUK: 1
NFKB2-signaling imbalance → MAP3K14: 1
AIRE-expression insufficiency → MAP3K14: 1
NFKB2-signaling imbalance → RELB: 1
AIRE-expression insufficiency → RELB: 1
Actin-cytoskeleton insufficiency → MSN: 1
Transferrin uptake insufficiency → TFRC: 1
TCR- and BCR-signalosome insufficiency → SASH3: 1
Actin-cytoskeleton insufficiency → WAS: 1
Actin-cytoskeleton insufficiency → WIPF1: 1
Actin-cytoskeleton insufficiency → ARPCB1: 1
DNA-damage sensing insufficiency → ATM: 1
DNA-methylation insufficiency → DNMT3B: 1
DNA-replication insufficiency → POLE2: 1
Transcription factor insufficiency → Del22q11.2, TBX1: 1
Transcription factor insufficiency → FOXN1: 1
Contiguous gene syndrome → Del11q23del: 1
Mitochondrial RNA-metabolism insufficiency → RMRP: 1
Replication fork DNA-reannealing insufficiency → SMARCAL1: 1
JAK/STAT/SOCS-signaling imbalance → STAT3-DN: 1
Glycosylation insufficiency → PGM3: 1
Folate cycle insufficiency → MTHFD1: 1
Store-operated calcium-entry insufficiency → ORAI1: 1
Store-operated calcium-entry insufficiency → STIM1: 1
Purine metabolism insufficiency → PNP: 1
TLR7-ligand availability imbalance → PNP: 1
IL-2-signalling imbalance → STAT5B: 1
Histone-methylation imbalance → KMT2D: 1
Histone-methylation imbalance → KDM6A: 1
PIP3-signalling imbalance → PIK3CD: 1
PIP3-signalling imbalance → PIK3R1: 1
PIP3-signalling imbalance → PTEN: 1
B-cell co-receptor-signaling insufficiency → CD19: 1
B-cell co-receptor-signaling insufficiency → CD81: 1
BAFF/APRIL/BLYS:TACI-signaling insufficiency → TNFRSF13B: 1
B-cell co-signaling insufficiency → TNFRSF13B: 1
TWEAK:TWEAKR-signaling insufficiency → TNFSF12: 1
T:B-cell co-signaling insufficiency → TNFSF12: 1
NFKB1-signaling imbalance → NFKB1: 1
NFKB2-signaling imbalance → NFKB2: 1
AIRE-expression insufficiency → NFKB2: 1
Transcription factor insufficiency → IKZF1: 1
Transcriptional co-factor insufficiency → IRF2BP2: 1
Actin-cytoskeleton insufficiency → ARHGEF1: 1
Actin-cytoskeleton insufficiency → RAC2: 1
PIP3-signalling imbalance → PIK3CG: 1
Class-switch-recombination and somatic hypermutation insufficiency → AICDA: 1
Class-switch-recombination and somatic hypermutation insufficiency → UNG: 1
Class-switch-recombination and somatic hypermutation insufficiency → CTNNBL1: 1
BAFF/APRIL/BLYS:TACI-signaling insufficiency → TNFSF13: 1
B-cell co-signaling insufficiency → TNFSF13: 1
CBM-signalosome insufficiency → CARD11-GOF: 1
Transcription factor insufficiency → FOXP3: 1
IL-2-signalling imbalance → IL2RA,B: 1
CTLA4-insufficiency → CTLA4: 1
CTLA4-insufficiency → LRBA: 1
CTLA4-insufficiency → DEF6: 1
JAK/STAT/SOCS-signaling imbalance → STAT3-GOF: 1
Transcription factor insufficiency → BACH2: 1
AIRE-expression insufficiency → AIRE: 1
Ubiquitination-insufficiency → ITCH: 1
Protein homeostasis-insufficiency → TPP2: 1
JAK/STAT/SOCS-signaling imbalance → JAK1: 1
Collagen homeostasis-insufficiency → PEPD: 1
JAK/STAT/SOCS-signaling imbalance → SOCS1: 1
PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency → PDCD1: 1
FASL:FAS-signaling insufficiency → FAS, FASL: 1
FASL:FAS- and TNF:TNFR-signaling insufficiency → CASP10: 1
FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency → CASP8: 1
FASL:FAS- and TNF:TNFR-signaling insufficiency → FADD: 1
DNA-methylation insufficiency → TET2: 1
FASL:FAS-signaling insufficiency → TET2: 1
Mitochondrial glucose utilization insufficiency → G6PC3: 1
Mitochondrial glucose utilization insufficiency → G6PT1: 1
NADPH-oxidase insufficiency → CYBB, CYBA, NCF1, NCF2: 1
IL-1-family imbalance → CYBB, CYBA, NCF1, NCF2: 1
Complement tagging insufficiency → C1QA, B, C: 1
Complement tagging insufficiency → C4A, B: 1
Complement tagging insufficiency → C2: 1
Complement tagging insufficiency → C3: 1
LAT → HCT: 1
SLP76 → HCT: 1
RAG1,2 → HCT: 1
RAG1,2 → GT: 1
DCLRE1C → HCT: 1
DCLRE1C → GT: 1
PRKCD → HCT: 1
PRKCD → Directed or undirected cell depletion, function or proliferation inhibition: 1
NHEJ1 → HCT: 1
LIG4 → HCT: 1
ADA → Substrate/enzyme replacement therapy: 1
ADA → HCT: 1
ADA → GT: 1
CD40LG → HCT: 1
CD40LG → HCT: 1
ICOS → Directed or undirected cell depletion, function or proliferation inhibition: 1
ICOS → HCT: 1
CD3G → HCT: 1
ZAP70 → HCT: 1
ZAP70/HM-GOF → HCT: 1
IKZF2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
IKZF2 → HCT: 1
DOCK8 → HCT: 1
STK4 → HCT: 1
TRAC → HCT: 1
LCK → HCT: 1
ITK → HCT: 1
MALT1 → HCT: 1
CARD11 → HCT: 1
IKBKB-LOF → HCT: 1
IKBKB-GOF → Directed or undirected cell depletion, function or proliferation inhibition: 1
CHUK → HCT: 1
CHUK → Directed or undirected cell depletion, function or proliferation inhibition: 1
MAP3K14 → HCT: 1
MAP3K14 → Directed or undirected cell depletion, function or proliferation inhibition: 1
RELB → HCT: 1
RELB → Directed or undirected cell depletion, function or proliferation inhibition: 1
MSN → Directed or undirected cell depletion, function or proliferation inhibition: 1
MSN → HCT: 1
TFRC → Directed or undirected cell depletion, function or proliferation inhibition: 1
TFRC → HCT: 1
SASH3 → Directed or undirected cell depletion, function or proliferation inhibition: 1
SASH3 → HCT: 1
WAS → HCT: 1
WAS → GT: 1
WIPF1 → HCT: 1
ARPCB1 → HCT: 1
ATM → Directed or undirected cell depletion, function or proliferation inhibition: 1
ATM → HCT: 1
DNMT3B → Directed or undirected cell depletion, function or proliferation inhibition: 1
DNMT3B → HCT: 1
POLE2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
Del22q11.2, TBX1 → Thymus transplantation: 1
FOXN1 → Thymus transplantation: 1
Del11q23del → Directed or undirected cell depletion, function or proliferation inhibition: 1
Del11q23del → Thymus transplantation: 1
RMRP → Directed or undirected cell depletion, function or proliferation inhibition: 1
RMRP → HCT: 1
SMARCAL1 → Directed or undirected cell depletion, function or proliferation inhibition: 1
SMARCAL1 → HCT: 1
STAT3-DN → Anti-inflammatory drugs: 1
STAT3-DN → HCT: 1
PGM3 → Directed or undirected cell depletion, function or proliferation inhibition: 1
PGM3 → HCT: 1
MTHFD1 → Substrate/enzyme replacement therapy: 1
ORAI1 → HCT: 1
STIM1 → HCT: 1
PNP → Substrate/enzyme replacement therapy: 1
PNP → HCT: 1
PNP → GT: 1
STAT5B → Directed or undirected cell depletion, function or proliferation inhibition: 1
STAT5B → HCT: 1
KMT2D → Directed or undirected cell depletion, function or proliferation inhibition: 1
KDM6A → Directed or undirected cell depletion, function or proliferation inhibition: 1
PIK3CD → Directed signaling pathway inhibition: 1
PIK3CD → HCT: 1
PIK3R1 → Directed signaling pathway inhibition: 1
PIK3R1 → HCT: 1
PTEN → Directed signaling pathway inhibition: 1
CD19 → Directed or undirected cell depletion, function or proliferation inhibition: 1
CD81 → Directed or undirected cell depletion, function or proliferation inhibition: 1
TNFRSF13B → Directed or undirected cell depletion, function or proliferation inhibition: 1
TNFRSF13B → Directed or undirected cell depletion, function or proliferation inhibition: 1
TNFSF12 → Directed or undirected cell depletion, function or proliferation inhibition: 1
TNFSF12 → Directed or undirected cell depletion, function or proliferation inhibition: 1
NFKB1 → Directed or undirected cell depletion, function or proliferation inhibition: 1
NFKB1 → Anti-inflammatory drugs: 1
NFKB1 → HCT: 1
NFKB2 → HCT: 1
NFKB2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
IKZF1 → Directed or undirected cell depletion, function or proliferation inhibition: 1
IKZF1 → HCT: 1
IRF2BP2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
IRF2BP2 → Anti-inflammatory drugs: 1
ARHGEF1 → Directed or undirected cell depletion, function or proliferation inhibition: 1
RAC2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
PIK3CG → Directed signaling pathway inhibition: 1
PIK3CG → Directed or undirected cell depletion, function or proliferation inhibition: 1
AICDA → Directed or undirected cell depletion, function or proliferation inhibition: 1
UNG → Directed or undirected cell depletion, function or proliferation inhibition: 1
CTNNBL1 → Directed or undirected cell depletion, function or proliferation inhibition: 1
TNFSF13 → Directed or undirected cell depletion, function or proliferation inhibition: 1
TNFSF13 → Directed or undirected cell depletion, function or proliferation inhibition: 1
CARD11-GOF → Directed or undirected cell depletion, function or proliferation inhibition: 1
FOXP3 → HCT: 1
FOXP3 → Checkpoint / Treg augmentation: 1
FOXP3 → Directed or undirected cell depletion, function or proliferation inhibition: 1
IL2RA,B → HCT: 1
IL2RA,B → Checkpoint / Treg augmentation: 1
IL2RA,B → Directed or undirected cell depletion, function or proliferation inhibition: 1
CTLA4 → HCT: 1
CTLA4 → Checkpoint / Treg augmentation: 1
LRBA → HCT: 1
LRBA → Checkpoint / Treg augmentation: 1
DEF6 → HCT: 1
DEF6 → Checkpoint / Treg augmentation: 1
STAT3-GOF → Directed signaling pathway inhibition: 1
STAT3-GOF → Anti-inflammatory drugs: 1
BACH2 → Checkpoint / Treg augmentation: 1
BACH2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
BACH2 → Anti-inflammatory drugs: 1
AIRE → Checkpoint / Treg augmentation: 1
AIRE → Directed or undirected cell depletion, function or proliferation inhibition: 1
ITCH → Checkpoint / Treg augmentation: 1
ITCH → Directed or undirected cell depletion, function or proliferation inhibition: 1
TPP2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
TPP2 → HCT: 1
JAK1 → Directed signaling pathway inhibition: 1
JAK1 → Anti-inflammatory drugs: 1
PEPD → Directed or undirected cell depletion, function or proliferation inhibition: 1
PEPD → Anti-inflammatory drugs: 1
SOCS1 → Directed signaling pathway inhibition: 1
SOCS1 → Anti-inflammatory drugs: 1
PDCD1 → Directed or undirected cell depletion, function or proliferation inhibition: 1
FAS, FASL → Directed signaling pathway inhibition: 1
CASP10 → Directed signaling pathway inhibition: 1
CASP8 → Directed signaling pathway inhibition: 1
CASP8 → Directed or undirected cell depletion, function or proliferation inhibition: 1
CASP8 → HCT: 1
FADD → Directed signaling pathway inhibition: 1
FADD → Directed or undirected cell depletion, function or proliferation inhibition: 1
FADD → HCT: 1
TET2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
TET2 → Directed signaling pathway inhibition: 1
TET2 → HCT: 1
G6PC3 → Directed signaling pathway inhibition: 1
G6PT1 → Directed signaling pathway inhibition: 1
CYBB, CYBA, NCF1, NCF2 → HCT: 1
CYBB, CYBA, NCF1, NCF2 → GT: 1
CYBB, CYBA, NCF1, NCF2 → Anti-inflammatory drugs: 1
C1QA, B, C → Directed signaling pathway inhibition: 1
C1QA, B, C → Directed or undirected cell depletion, function or proliferation inhibition: 1
C1QA, B, C → Anti-inflammatory drugs: 1
C4A, B → Directed signaling pathway inhibition: 1
C4A, B → Directed or undirected cell depletion, function or proliferation inhibition: 1
C4A, B → Anti-inflammatory drugs: 1
C2 → Directed signaling pathway inhibition: 1
C2 → Directed or undirected cell depletion, function or proliferation inhibition: 1
C2 → Anti-inflammatory drugs: 1
C3 → Directed signaling pathway inhibition: 1
C3 → Directed or undirected cell depletion, function or proliferation inhibition: 1
C3 → Anti-inflammatory drugs: 1
Directed or undirected cell depletion, function or proliferation inhibition → CAAR- (chimeric autoantibody receptor-) T cells: 1
Directed or undirected cell depletion, function or proliferation inhibition → Daratumumab: 1
Directed or undirected cell depletion, function or proliferation inhibition → Belimumab: 1
Directed or undirected cell depletion, function or proliferation inhibition → Epratuzumab: 1
Directed or undirected cell depletion, function or proliferation inhibition → Ibrutinib: 1
Directed or undirected cell depletion, function or proliferation inhibition → Blinatumomab: 1
Directed or undirected cell depletion, function or proliferation inhibition → Inebilizumab: 1
Directed or undirected cell depletion, function or proliferation inhibition → Alemtuzumab: 1
Directed or undirected cell depletion, function or proliferation inhibition → ATG (anti-thymocyte globulin): 1
Directed or undirected cell depletion, function or proliferation inhibition → AZT (azathioprine): 1
Directed or undirected cell depletion, function or proliferation inhibition → Vbl (vinblastine): 1
Directed or undirected cell depletion, function or proliferation inhibition → CY (cyclophosphamide): 1
Directed or undirected cell depletion, function or proliferation inhibition → VP16 (etoposide): 1
Directed or undirected cell depletion, function or proliferation inhibition → CyA (cyclosporin A): 1
Directed or undirected cell depletion, function or proliferation inhibition → Bortezomib, Carfilzomib: 1
Directed or undirected cell depletion, function or proliferation inhibition → Lenalidomid, thalidomide: 1
Checkpoint / Treg augmentation → Low-dose aldesleukin: 1
Checkpoint / Treg augmentation → CAR-Tregs: 1
Directed signaling pathway inhibition → Fostamatinib: 1
Directed signaling pathway inhibition → Idelalisib: 1
Directed signaling pathway inhibition → Leniosilib: 1
Directed signaling pathway inhibition → Hydroxychloroquine: 1
Anti-inflammatory drugs → Anakinra: 1
Anti-inflammatory drugs → Tocilizumab: 1
Anti-inflammatory drugs → Anti-TNF: 1
Anti-inflammatory drugs → Anti-IFN: 1
Anti-inflammatory drugs → Anifrolumab: 1
TCR-signalosome insufficiency: 6
LAT: 1
SLP76: 1
V(D)J-recombination insufficiency: 5
RAG1,2: 2
DCLRE1C: 2
PRKCD: 2
AIRE-expression insufficiency: 6
NHEJ1: 1
LIG4: 1
Purine metabolism insufficiency: 2
ADA: 3
CD40:CD40L-signaling insufficiency: 1
CD40LG: 2
T:B-cell co-signaling insufficiency: 3
ICOS:ICOSL-signaling insufficiency: 1
ICOS: 2
TCR-complex insufficiency: 2
CD3G: 1
ZAP70: 1
ZAP70/HM-GOF: 1
Transcription factor insufficiency: 6
IKZF2: 2
Actin-cytoskeleton insufficiency: 7
DOCK8: 1
Hippo-signaling insufficiency: 1
STK4: 1
TRAC: 1
LCK: 1
ITK: 1
CBM-signalosome insufficiency: 3
MALT1: 1
CARD11: 1
NFKB1-signaling imbalance: 3
IKBKB-LOF: 1
IKBKB-GOF: 1
NFKB2-signaling imbalance: 4
CHUK: 2
MAP3K14: 2
RELB: 2
MSN: 2
Transferrin uptake insufficiency: 1
TFRC: 2
TCR- and BCR-signalosome insufficiency: 1
SASH3: 2
WAS: 2
WIPF1: 1
ARPCB1: 1
DNA-damage sensing insufficiency: 1
ATM: 2
DNA-methylation insufficiency: 2
DNMT3B: 2
DNA-replication insufficiency: 1
POLE2: 1
Del22q11.2, TBX1: 1
FOXN1: 1
Contiguous gene syndrome: 1
Del11q23del: 2
Mitochondrial RNA-metabolism insufficiency: 1
RMRP: 2
Replication fork DNA-reannealing insufficiency: 1
SMARCAL1: 2
JAK/STAT/SOCS-signaling imbalance: 4
STAT3-DN: 2
Glycosylation insufficiency: 1
PGM3: 2
Folate cycle insufficiency: 1
MTHFD1: 1
Store-operated calcium-entry insufficiency: 2
ORAI1: 1
STIM1: 1
PNP: 3
TLR7-ligand availability imbalance: 1
IL-2-signalling imbalance: 2
STAT5B: 2
Histone-methylation imbalance: 2
KMT2D: 1
KDM6A: 1
PIP3-signalling imbalance: 4
PIK3CD: 2
PIK3R1: 2
PTEN: 1
B-cell co-receptor-signaling insufficiency: 2
CD19: 1
CD81: 1
BAFF/APRIL/BLYS:TACI-signaling insufficiency: 2
TNFRSF13B: 2
B-cell co-signaling insufficiency: 2
TWEAK:TWEAKR-signaling insufficiency: 1
TNFSF12: 2
NFKB1: 3
NFKB2: 2
IKZF1: 2
Transcriptional co-factor insufficiency: 1
IRF2BP2: 2
ARHGEF1: 1
RAC2: 1
PIK3CG: 2
Class-switch-recombination and somatic hypermutation insufficiency: 3
AICDA: 1
UNG: 1
CTNNBL1: 1
TNFSF13: 2
CARD11-GOF: 1
FOXP3: 3
IL2RA,B: 3
CTLA4-insufficiency: 3
CTLA4: 2
LRBA: 2
DEF6: 2
STAT3-GOF: 2
BACH2: 3
AIRE: 2
Ubiquitination-insufficiency: 1
ITCH: 2
Protein homeostasis-insufficiency: 1
TPP2: 2
JAK1: 2
Collagen homeostasis-insufficiency: 1
PEPD: 2
SOCS1: 2
PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency: 1
PDCD1: 1
FASL:FAS-signaling insufficiency: 2
FAS, FASL: 1
FASL:FAS- and TNF:TNFR-signaling insufficiency: 2
CASP10: 1
FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency: 1
CASP8: 3
FADD: 3
TET2: 3
Mitochondrial glucose utilization insufficiency: 2
G6PC3: 1
G6PT1: 1
NADPH-oxidase insufficiency: 1
CYBB, CYBA, NCF1, NCF2: 3
IL-1-family imbalance: 1
Complement tagging insufficiency: 4
C1QA, B, C: 3
C4A, B: 3
C2: 3
C3: 3
HCT: 57
GT: 6
Directed or undirected cell depletion, function or proliferation inhibition: 54
Substrate/enzyme replacement therapy: 3
Thymus transplantation: 3
Anti-inflammatory drugs: 13
Directed signaling pathway inhibition: 18
Checkpoint / Treg augmentation: 8
Glucocorticosteroids: 4
Rituximab: 2
CAAR- (chimeric autoantibody receptor-) T cells: 1
Daratumumab: 1
Belimumab: 1
Epratuzumab: 1
Ibrutinib: 1
Blinatumomab: 1
Inebilizumab: 1
Alemtuzumab: 1
ATG (anti-thymocyte globulin): 1
AZT (azathioprine): 1
MMF (mycophenolate mofetil): 3
Vbl (vinblastine): 1
CY (cyclophosphamide): 1
VP16 (etoposide): 1
CyA (cyclosporin A): 1
Bortezomib, Carfilzomib: 1
Lenalidomid, thalidomide: 1
Abatacept, belatacept: 2
Rapamycin: 4
Low-dose aldesleukin: 1
CAR-Tregs: 1
Fostamatinib: 1
Idelalisib: 1
Leniosilib: 1
Ruxolitinib, baricitinib, tofacitinib: 2
Hydroxychloroquine: 1
Anakinra: 1
Tocilizumab: 1
Anti-TNF: 1
Anti-IL-(interleukin-)12/-23/-IL-17/-18-directed therapies: 3
Anti-IFN: 1
Anifrolumab: 1
TCR-signalosome insufficiency
LAT
SLP76
V(D)J-recombination insufficiency
RAG1,2
DCLRE1C
PRKCD
AIRE-expression insufficiency
NHEJ1
LIG4
Purine metabolism insufficiency
ADA
CD40:CD40L-signaling insufficiency
CD40LG
T:B-cell co-signaling insufficiency
ICOS:ICOSL-signaling insufficiency
ICOS
TCR-complex insufficiency
CD3G
ZAP70
ZAP70/HM-GOF
Transcription factor insufficiency
IKZF2
Actin-cytoskeleton insufficiency
DOCK8
Hippo-signaling insufficiency
STK4
TRAC
LCK
ITK
CBM-signalosome insufficiency
MALT1
CARD11
NFKB1-signaling imbalance
IKBKB-LOF
IKBKB-GOF
NFKB2-signaling imbalance
CHUK
MAP3K14
RELB
MSN
Transferrin uptake insufficiency
TFRC
TCR- and BCR-signalosome insufficiency
SASH3
WAS
WIPF1
ARPCB1
DNA-damage sensing insufficiency
ATM
DNA-methylation insufficiency
DNMT3B
DNA-replication insufficiency
POLE2
Del22q11.2, TBX1
FOXN1
Contiguous gene syndrome
Del11q23del
Mitochondrial RNA-metabolism insufficiency
RMRP
Replication fork DNA-reannealing insufficiency
SMARCAL1
JAK/STAT/SOCS-signaling imbalance
STAT3-DN
Glycosylation insufficiency
PGM3
Folate cycle insufficiency
MTHFD1
Store-operated calcium-entry insufficiency
ORAI1
STIM1
PNP
TLR7-ligand availability imbalance
IL-2-signalling imbalance
STAT5B
Histone-methylation imbalance
KMT2D
KDM6A
PIP3-signalling imbalance
PIK3CD
PIK3R1
PTEN
B-cell co-receptor-signaling insufficiency
CD19
CD81
BAFF/APRIL/BLYS:TACI-signaling insufficiency
TNFRSF13B
B-cell co-signaling insufficiency
TWEAK:TWEAKR-signaling insufficiency
TNFSF12
NFKB1
NFKB2
IKZF1
Transcriptional co-factor insufficiency
IRF2BP2
ARHGEF1
RAC2
PIK3CG
Class-switch-recombination and somatic hypermutation insufficiency
AICDA
UNG
CTNNBL1
TNFSF13
CARD11-GOF
FOXP3
IL2RA,B
CTLA4-insufficiency
CTLA4
LRBA
DEF6
STAT3-GOF
BACH2
AIRE
Ubiquitination-insufficiency
ITCH
Protein homeostasis-insufficiency
TPP2
JAK1
Collagen homeostasis-insufficiency
PEPD
SOCS1
PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency
PDCD1
FASL:FAS-signaling insufficiency
FAS, FASL
FASL:FAS- and TNF:TNFR-signaling insufficiency
CASP10
FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency
CASP8
FADD
TET2
Mitochondrial glucose utilization insufficiency
G6PC3
G6PT1
NADPH-oxidase insufficiency
CYBB, CYBA, NCF1, NCF2
IL-1-family imbalance
Complement tagging insufficiency
C1QA, B, C
C4A, B
C2
C3
HCT
GT
Directed or undirected cell depletion, function or proliferation inhibition
Substrate/enzyme replacement therapy
Thymus transplantation
Anti-inflammatory drugs
Directed signaling pathway inhibition
Checkpoint / Treg augmentation
Glucocorticosteroids
Rituximab
CAAR- (chimeric autoantibody receptor-) T cells
Daratumumab
Belimumab
Epratuzumab
Ibrutinib
Blinatumomab
Inebilizumab
Alemtuzumab
ATG (anti-thymocyte globulin)
AZT (azathioprine)
MMF (mycophenolate mofetil)
Vbl (vinblastine)
CY (cyclophosphamide)
VP16 (etoposide)
CyA (cyclosporin A)
Bortezomib, Carfilzomib
Lenalidomid, thalidomide
Abatacept, belatacept
Rapamycin
Low-dose aldesleukin
CAR-Tregs
Fostamatinib
Idelalisib
Leniosilib
Ruxolitinib, baricitinib, tofacitinib
Hydroxychloroquine
Anakinra
Tocilizumab
Anti-TNF
Anti-IL-(interleukin-)12/-23/-IL-17/-18-directed therapies
Anti-IFN
Anifrolumab
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