JACI-D-23-00956-Figure 2

Your Diagram Title TCR-signalosome insufficiency → T-cell activation insufficiency: 6 V(D)J-recombination insufficiency → T- and B-cell antigen receptor-repertoire diversity insufficiency: 5 AIRE-expression insufficiency → T- and B-cell antigen receptor-repertoire diversity insufficiency: 5 Actin-cytoskeleton insufficiency → myeloid and lymphoid cell activation, differentiation, and migration insufficiency: 5 NFKB2-signaling imbalance → T- and B-cell antigen receptor-repertoire diversity insufficiency: 4 PIP3-signalling imbalance → T- and B-cell hyperactivity: 4 T:B-cell co-signaling insufficiency → T- and B-cell activation insufficiency: 3 CBM-signalosome insufficiency → T- and B-cell activation insufficiency: 3 NFKB1-signaling imbalance → T- and B-cell activation insufficiency: 3 Transcription factor insufficiency → Treg insufficiency: 3 IL-2-signalling imbalance → Treg insufficiency: 3 Class-switch-recombination and somatic hypermutation insufficiency → B-cell differentiation insufficiency: 3 CTLA4-insufficiency → Treg:Teff co-signaling insufficiency: 3 JAK/STAT/SOCS-signaling imbalance → Treg and Thelp differentiation insufficiency: 3 IPEX-like → IL2RA,B: 2 Purine metabolism insufficiency → lymphocyte survival insufficiency: 2 Purine metabolism insufficiency → Treg insufficiency: 2 TCR-complex insufficiency → T-cell activation insufficiency: 2 DNA-methylation insufficiency → lymphocyte development insufficiency: 2 Transcription factor insufficiency → thymic stroma insufficiency: 2 Histone-methylation imbalance → T- and B-cell differentiation insufficiency: 2 B-cell co-receptor-signaling insufficiency → B-cell activation insufficiency: 2 B-cell co-signaling insufficiency → B-cell activation insufficiency: 2 Transcription factor insufficiency → lymphocyte differentiation insufficiency: 2 FASL:FAS-signaling insufficiency → lymphocyte apoptosis insufficiency: 2 FASL:FAS- and TNF:TNFR-signaling insufficiency → lymphocyte apoptosis insufficiency: 2 Mitochondrial glucose utilization insufficiency → Treg and Thelp differentiation insufficiency: 2 AIHA → LAT: 1 AIHA → SLP76: 1 AIHA → RAG1,2: 1 ITP → LAT: 1 ITP → RAG1,2: 1 ITP → DCLRE1C: 1 ITP → NHEJ1: 1 thyroiditis → RAG1,2: 1 dermatitis → ADA: 1 AIN → RAG1,2: 1 granuloma(-tosis) → RAG1,2: 1 granuloma(-tosis) → PRKCD: 1 AIHA → NHEJ1: 1 aplastic anemia → NHEJ1: 1 vitiligo → RAG1,2: 1 thyroiditis → PRKCD: 1 thyroiditis → NHEJ1: 1 alopecia → RAG1,2: 1 neuropathy → RAG1,2: 1 myopathy → RAG1,2: 1 AITTP → LAT: 1 arthritis → PRKCD: 1 AIHA → LIG4: 1 ITP → LIG4: 1 nephritis → LIG4: 1 pneumonitis → LIG4: 1 granuloma(-tosis) → LIG4: 1 AIHA → ADA: 1 ITP → ADA: 1 thyroiditis → ADA: 1 T1D → ADA: 1 granuloma(-tosis) → ADA: 1 AIHA → CD40LG: 1 ITP → CD40LG: 1 thyroiditis → CD40LG: 1 nephritis → CD40LG: 1 hepatitis → CD40LG: 1 arthritis → CD40LG: 1 AIHA → ICOS: 1 ITP → ICOS: 1 AIN → ICOS: 1 thyroiditis → ICOS: 1 pneumonitis → ICOS: 1 arthritis → ICOS: 1 AIHA → CD3G: 1 ITP → CD3G: 1 thyroiditis → CD3G: 1 nephritis → CD3G: 1 hepatitis → CD3G: 1 AIHA → ZAP70: 1 ITP → ZAP70: 1 dermatitis → ZAP70: 1 nephritis → ZAP70/HM-GOF: 1 dermatitis → ZAP70/HM-GOF: 1 FVIII-AAB → ZAP70/HM-GOF: 1 ITP → IKZF2: 1 SLE/SLE-like → IKZF2: 1 AIHA → DOCK8: 1 ITP → DOCK8: 1 uveitis → DOCK8: 1 thyroiditis → DOCK8: 1 vasculitis → DOCK8: 1 SLE/SLE-like → DOCK8: 1 AIHA → STK4: 1 ITP → STK4: 1 AIN → STK4: 1 vasculitis → STK4: 1 nephritis → STK4: 1 arthritis → STK4: 1 AIHA → TRAC: 1 alopecia → TRAC: 1 vitiligo → TRAC: 1 ITP → LCK: 1 dermatitis → LCK: 1 arthritis → LCK: 1 AIHA → ITK: 1 ITP → ITK: 1 vitiligo → ITK: 1 pneumonitis → ITK: 1 granuloma(-tosis) → ITK: 1 AIHA → MALT1: 1 alopecia → MALT1: 1 vitiligo → MALT1: 1 AIHA → CARD11: 1 ITP → CARD11: 1 dermatitis → CARD11: 1 alopecia → CARD11: 1 vasculitis → CARD11: 1 T1D → CARD11: 1 arthritis → CARD11: 1 SLE/SLE-like → CARD11: 1 AIHA → IKBKB-LOF: 1 AIN → IKBKB-LOF: 1 dermatitis → IKBKB-LOF: 1 hepatitis → CHUK: 1 CK-AAB → MAP3K14: 1 dermatitis → RELB: 1 hepatitis → RELB: 1 pneumonitis → RELB: 1 alopecia → MSN: 1 dermatitis → MSN: 1 TTP → MSN: 1 ITP → TFRC: 1 AIN → TFRC: 1 dermatitis → TFRC: 1 vitiligo → TFRC: 1 AIHA → SASH3: 1 ITP → SASH3: 1 AIN → SASH3: 1 thyroiditis → SASH3: 1 granuloma(-tosis) → SASH3: 1 AIHA → WAS: 1 ITP → WAS: 1 AIN → WAS: 1 arthritis → WAS: 1 vasculitis → WAS: 1 enteropathy → WAS: 1 dermatitis → WAS: 1 nephritis → WAS: 1 hepatitis → WAS: 1 myositis → WAS: 1 dermatitis → WIPF1: 1 enteropathy → WIPF1: 1 dermatitis → ARPCB1: 1 enteropathy → ARPCB1: 1 vasculitis → ARPCB1: 1 myositis → ARPCB1: 1 AIHA → ARPCB1: 1 ITP → ARPCB1: 1 AIHA → ATM: 1 ITP → ATM: 1 AIN → ATM: 1 arthritis → ATM: 1 hepatitis → ATM: 1 thyroiditis → ATM: 1 thyroiditis → DNMT3B: 1 hepatitis → DNMT3B: 1 nephritis → DNMT3B: 1 thyroiditis → POLE2: 1 T1D → POLE2: 1 ITP → Del22q11.2, TBX1: 1 AIHA → Del22q11.2, TBX1: 1 thyroiditis → Del22q11.2, TBX1: 1 arthritis → Del22q11.2, TBX1: 1 dermatitis → Del22q11.2, TBX1: 1 enteropathy → Del22q11.2, TBX1: 1 dermatitis → FOXN1: 1 alopecia → FOXN1: 1 nail dystrophy → FOXN1: 1 ITP → Del11q23del: 1 pneumonitis → Del11q23del: 1 thyroiditis → Del11q23del: 1 ITP → RMRP: 1 AIHA → RMRP: 1 AIN → RMRP: 1 thyroiditis → RMRP: 1 arthritis → RMRP: 1 enteropathy → RMRP: 1 dermatitis → RMRP: 1 neuropathy → RMRP: 1 nephropathy → SMARCAL1: 1 AIHA → SMARCAL1: 1 ITP → SMARCAL1: 1 enteropathy → SMARCAL1: 1 SLE/SLE-like → STAT3-DN: 1 dermatitis → PGM3: 1 vasculitis → PGM3: 1 nephritis → PGM3: 1 AIN → PGM3: 1 hepatitis → MTHFD1: 1 SLE/SLE-like → MTHFD1: 1 AIHA → IKBKB-GOF: 1 AIN → IKBKB-GOF: 1 AIHA → ORAI1: 1 ITP → ORAI1: 1 AIHA → STIM1: 1 ITP → STIM1: 1 AIHA → PNP: 1 ITP → PNP: 1 SLE/SLE-like → PNP: 1 PSC → PNP: 1 arthritis → PNP: 1 dermatitis → STAT5B: 1 ITP → STAT5B: 1 thyroiditis → STAT5B: 1 alopecia → STAT5B: 1 arthritis → STAT5B: 1 ILD → STAT5B: 1 ITP → KMT2D: 1 AIHA → KMT2D: 1 thyroiditis → KMT2D: 1 T1D → KMT2D: 1 vitiligo → KMT2D: 1 ITP → KDM6A: 1 AIHA → KDM6A: 1 thyroiditis → KDM6A: 1 T1D → KDM6A: 1 vitiligo → KDM6A: 1 AIHA → PIK3CD: 1 ITP → PIK3CD: 1 AIN → PIK3CD: 1 thyroiditis → PIK3CD: 1 hepatitis → PIK3CD: 1 pancreatitis → PIK3CD: 1 nephritis → PIK3CD: 1 enteropathy → PIK3CD: 1 AIHA → PIK3R1: 1 ITP → PIK3R1: 1 AIN → PIK3R1: 1 thyroiditis → PIK3R1: 1 hepatitis → PIK3R1: 1 pancreatitis → PIK3R1: 1 nephritis → PIK3R1: 1 enteropathy → PIK3R1: 1 AIHA → PTEN: 1 thyroiditis → PTEN: 1 enteropathy → PTEN: 1 nephritis → CD19: 1 nephritis → CD81: 1 vasculitis → CD81: 1 arthritis → CD81: 1 AIHA → TNFRSF13B: 1 ITP → TNFRSF13B: 1 vitiligo → TNFRSF13B: 1 T1D → TNFRSF13B: 1 enteropathy → TNFRSF13B: 1 hepatitis → TNFRSF13B: 1 arthritis → TNFRSF13B: 1 urticaria → TNFRSF13B: 1 parotitis → TNFRSF13B: 1 ITP → TNFSF12: 1 AIN → TNFSF12: 1 AIHA → NFKB1: 1 ITP → NFKB1: 1 AIN → NFKB1: 1 thyroiditis → NFKB1: 1 enteropathy → NFKB1: 1 hepatitis → NFKB1: 1 ILD → NFKB1: 1 dermatitis → NFKB1: 1 alopecia → NFKB1: 1 arthritis → NFKB1: 1 alopecia → NFKB2: 1 dermatitis → NFKB2: 1 hepatitis → NFKB2: 1 CK-AAB → NFKB2: 1 AIHA → IKZF1: 1 ITP → IKZF1: 1 AIN → IKZF1: 1 thyroiditis → IKZF1: 1 T1D → IKZF1: 1 hepatitis → IKZF1: 1 vasculitis → IKZF1: 1 alopecia → IKZF1: 1 vitiligo → IKZF1: 1 arthritis → IKZF1: 1 T1D → IRF2BP2: 1 ITP → ARHGEF1: 1 thyroiditis → RAC2: 1 nephritis → RAC2: 1 AIHA → PIK3CG: 1 ITP → PIK3CG: 1 dermatitis → PIK3CG: 1 enteropathy → PIK3CG: 1 ILD → PIK3CG: 1 AIHA → AICDA: 1 ITP → AICDA: 1 hepatitis → AICDA: 1 arthritis → AICDA: 1 enteropathy → AICDA: 1 uveitis → AICDA: 1 SLE/SLE-like → AICDA: 1 T1D → UNG: 1 ITP → CTNNBL1: 1 thyroiditis → CTNNBL1: 1 vitiligo → CTNNBL1: 1 alopecia → TNFSF13: 1 ITP → CARD11-GOF: 1 hepatitis → CARD11-GOF: 1 nephritis → CARD11-GOF: 1 arthritis → CARD11-GOF: 1 Polyendocrinopathy → FOXP3: 1 hypophysitis → FOXP3: 1 thyroiditis → FOXP3: 1 T1D → FOXP3: 1 adrenitis → FOXP3: 1 enteropathy → FOXP3: 1 dermatitis → FOXP3: 1 ITP → FOXP3: 1 AIHA → FOXP3: 1 AIN → FOXP3: 1 ITP → CTLA4: 1 AIHA → CTLA4: 1 AIN → CTLA4: 1 enteropathy → CTLA4: 1 ILD → CTLA4: 1 vitiligo → CTLA4: 1 ITP → LRBA: 1 AIHA → LRBA: 1 AIN → LRBA: 1 enteropathy → LRBA: 1 ILD → LRBA: 1 vitiligo → LRBA: 1 ITP → DEF6: 1 AIHA → DEF6: 1 enteropathy → DEF6: 1 AIHA → STAT3-GOF: 1 ITP → STAT3-GOF: 1 AIN → STAT3-GOF: 1 arthritis → STAT3-GOF: 1 enteropathy → STAT3-GOF: 1 ILD → STAT3-GOF: 1 thyroiditis → STAT3-GOF: 1 T1D → STAT3-GOF: 1 enteropathy → BACH2: 1 dermatomyositis → BACH2: 1 SLE/SLE-like → BACH2: 1 Polyendocrinopathy → AIRE: 1 thyroiditis → AIRE: 1 parathyroiditis → AIRE: 1 adrenitis → AIRE: 1 T1D → AIRE: 1 gonaditis → AIRE: 1 alopecia → AIRE: 1 enteropathy → AIRE: 1 CK-AAB, CMC → AIRE: 1 IFN-AAB, severe COVID19 → AIRE: 1 IF-AAB, pernicious anemia → AIRE: 1 ILD → ITCH: 1 thyroiditis → ITCH: 1 hepatitis → ITCH: 1 enteropathy → ITCH: 1 T1D → ITCH: 1 arthritis → ITCH: 1 uveitis → ITCH: 1 AIHA → TPP2: 1 ITP → TPP2: 1 AIN → TPP2: 1 thyroiditis → JAK1: 1 enteropathy → JAK1: 1 dermatitis → JAK1: 1 enteropathy → PEPD: 1 arthritis → PEPD: 1 SLE/SLE-like → PEPD: 1 AIHA → SOCS1: 1 ITP → SOCS1: 1 AIN → SOCS1: 1 arthritis → SOCS1: 1 psoriasis → SOCS1: 1 nephritis → SOCS1: 1 SLE/SLE-like → SOCS1: 1 thyroiditis → PDCD1: 1 T1D → PDCD1: 1 alveolitis → PDCD1: 1 AIHA → FAS, FASL: 1 ITP → FAS, FASL: 1 AIN → FAS, FASL: 1 lymphoproliferation → FAS, FASL: 1 nephritis → FAS, FASL: 1 hepatitis → FAS, FASL: 1 vasculitis → FAS, FASL: 1 pancreatitis → FAS, FASL: 1 aplastic anemia → FAS, FASL: 1 AIHA → CASP10: 1 SLE/SLE-like → CASP10: 1 enteropathy → CASP8: 1 hepatitis → CASP8: 1 pneumonitis → CASP8: 1 AIHA → FADD: 1 encephalopathy → FADD: 1 hepatopathy → FADD: 1 AIHA → TET2: 1 ITP → TET2: 1 enteropathy → G6PC3: 1 ITP → G6PC3: 1 arthritis → G6PC3: 1 enteropathy → G6PT1: 1 thyroiditis → G6PT1: 1 myasthenia gravis → G6PT1: 1 enteropathy → CYBB, CYBA, NCF1, NCF2: 1 ILD → CYBB, CYBA, NCF1, NCF2: 1 SLE/SLE-like → CYBB, CYBA, NCF1, NCF2: 1 dermatomyositis → CYBB, CYBA, NCF1, NCF2: 1 APS → CYBB, CYBA, NCF1, NCF2: 1 ITP → CYBB, CYBA, NCF1, NCF2: 1 arthritis → CYBB, CYBA, NCF1, NCF2: 1 alopecia → CYBB, CYBA, NCF1, NCF2: 1 SLE → C1QA, B, C: 1 SLE → C4A, B: 1 SLE → C2: 1 SLE/SLE-like → C3: 1 LAT → TCR-signalosome insufficiency: 1 SLP76 → TCR-signalosome insufficiency: 1 RAG1,2 → V(D)J-recombination insufficiency: 1 DCLRE1C → V(D)J-recombination insufficiency: 1 PRKCD → V(D)J-recombination insufficiency: 1 PRKCD → AIRE-expression insufficiency: 1 NHEJ1 → V(D)J-recombination insufficiency: 1 LIG4 → V(D)J-recombination insufficiency: 1 ADA → Purine metabolism insufficiency: 1 CD40LG → CD40:CD40L-signaling insufficiency: 1 CD40LG → T:B-cell co-signaling insufficiency: 1 ICOS → ICOS:ICOSL-signaling insufficiency: 1 ICOS → T:B-cell co-signaling insufficiency: 1 CD3G → TCR-complex insufficiency: 1 ZAP70 → TCR-signalosome insufficiency: 1 ZAP70/HM-GOF → TCR-signalosome insufficiency: 1 IKZF2 → Transcription factor insufficiency: 1 DOCK8 → Actin-cytoskeleton insufficiency: 1 STK4 → Hippo-signaling insufficiency: 1 TRAC → TCR-complex insufficiency: 1 LCK → TCR-signalosome insufficiency: 1 ITK → TCR-signalosome insufficiency: 1 MALT1 → CBM-signalosome insufficiency: 1 CARD11 → CBM-signalosome insufficiency: 1 IKBKB-LOF → NFKB1-signaling imbalance: 1 IKBKB-GOF → NFKB1-signaling imbalance: 1 CHUK → NFKB2-signaling imbalance: 1 CHUK → AIRE-expression insufficiency: 1 MAP3K14 → NFKB2-signaling imbalance: 1 MAP3K14 → AIRE-expression insufficiency: 1 RELB → NFKB2-signaling imbalance: 1 RELB → AIRE-expression insufficiency: 1 MSN → Actin-cytoskeleton insufficiency: 1 TFRC → Transferrin uptake insufficiency: 1 SASH3 → TCR- and BCR-signalosome insufficiency: 1 WAS → Actin-cytoskeleton insufficiency: 1 WIPF1 → Actin-cytoskeleton insufficiency: 1 ARPCB1 → Actin-cytoskeleton insufficiency: 1 ATM → DNA-damage sensing insufficiency: 1 DNMT3B → DNA-methylation insufficiency: 1 POLE2 → DNA-replication insufficiency: 1 Del22q11.2, TBX1 → Transcription factor insufficiency: 1 FOXN1 → Transcription factor insufficiency: 1 Del11q23del → Contiguous gene syndrome: 1 RMRP → Mitochondrial RNA-metabolism insufficiency: 1 SMARCAL1 → Replication fork DNA-reannealing insufficiency: 1 STAT3-DN → JAK/STAT/SOCS-signaling imbalance: 1 PGM3 → Glycosylation insufficiency: 1 MTHFD1 → Folate cycle insufficiency: 1 ORAI1 → Store-operated calcium-entry insufficiency: 1 STIM1 → Store-operated calcium-entry insufficiency: 1 PNP → Purine metabolism insufficiency: 1 PNP → TLR7-ligand availability imbalance: 1 STAT5B → IL-2-signalling imbalance: 1 KMT2D → Histone-methylation imbalance: 1 KDM6A → Histone-methylation imbalance: 1 PIK3CD → PIP3-signalling imbalance: 1 PIK3R1 → PIP3-signalling imbalance: 1 PTEN → PIP3-signalling imbalance: 1 CD19 → B-cell co-receptor-signaling insufficiency: 1 CD81 → B-cell co-receptor-signaling insufficiency: 1 TNFRSF13B → BAFF/APRIL/BLYS:TACI-signaling insufficiency: 1 TNFRSF13B → B-cell co-signaling insufficiency: 1 TNFSF12 → TWEAK:TWEAKR-signaling insufficiency: 1 TNFSF12 → T:B-cell co-signaling insufficiency: 1 NFKB1 → NFKB1-signaling imbalance: 1 NFKB2 → NFKB2-signaling imbalance: 1 NFKB2 → AIRE-expression insufficiency: 1 IKZF1 → Transcription factor insufficiency: 1 IRF2BP2 → Transcriptional co-factor insufficiency: 1 ARHGEF1 → Actin-cytoskeleton insufficiency: 1 RAC2 → Actin-cytoskeleton insufficiency: 1 PIK3CG → PIP3-signalling imbalance: 1 AICDA → Class-switch-recombination and somatic hypermutation insufficiency: 1 UNG → Class-switch-recombination and somatic hypermutation insufficiency: 1 CTNNBL1 → Class-switch-recombination and somatic hypermutation insufficiency: 1 TNFSF13 → BAFF/APRIL/BLYS:TACI-signaling insufficiency: 1 TNFSF13 → B-cell co-signaling insufficiency: 1 CARD11-GOF → CBM-signalosome insufficiency: 1 FOXP3 → Transcription factor insufficiency: 1 IL2RA,B → IL-2-signalling imbalance: 1 CTLA4 → CTLA4-insufficiency: 1 LRBA → CTLA4-insufficiency: 1 DEF6 → CTLA4-insufficiency: 1 STAT3-GOF → JAK/STAT/SOCS-signaling imbalance: 1 BACH2 → Transcription factor insufficiency: 1 AIRE → AIRE-expression insufficiency: 1 ITCH → Ubiquitination-insufficiency: 1 TPP2 → Protein homeostasis-insufficiency: 1 JAK1 → JAK/STAT/SOCS-signaling imbalance: 1 PEPD → Collagen homeostasis-insufficiency: 1 SOCS1 → JAK/STAT/SOCS-signaling imbalance: 1 PDCD1 → PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency: 1 FAS, FASL → FASL:FAS-signaling insufficiency: 1 CASP10 → FASL:FAS- and TNF:TNFR-signaling insufficiency: 1 CASP8 → FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency: 1 FADD → FASL:FAS- and TNF:TNFR-signaling insufficiency: 1 TET2 → DNA-methylation insufficiency: 1 TET2 → FASL:FAS-signaling insufficiency: 1 G6PC3 → Mitochondrial glucose utilization insufficiency: 1 G6PT1 → Mitochondrial glucose utilization insufficiency: 1 CYBB, CYBA, NCF1, NCF2 → NADPH-oxidase insufficiency: 1 CYBB, CYBA, NCF1, NCF2 → IL-1-family imbalance: 1 C1QA, B, C → Complement tagging insufficiency: 1 C4A, B → Complement tagging insufficiency: 1 C2 → Complement tagging insufficiency: 1 C3 → Complement tagging insufficiency: 1 CD40:CD40L-signaling insufficiency → T- and B-cell activation insufficiency: 1 ICOS:ICOSL-signaling insufficiency → T- and B-cell activation insufficiency: 1 Transcription factor insufficiency → T- and B-cell differentiation insufficiency: 1 Hippo-signaling insufficiency → T- and B-cell differentiation insufficiency: 1 Transferrin uptake insufficiency → T- and B-cell differentiation insufficiency: 1 TCR- and BCR-signalosome insufficiency → T- and B-cell activation insufficiency: 1 DNA-damage sensing insufficiency → T- and B-cell antigen receptor-repertoire diversity insufficiency: 1 DNA-replication insufficiency → lymphocyte development insufficiency: 1 Contiguous gene syndrome → thymic stroma insufficiency: 1 Contiguous gene syndrome → Treg insufficiency: 1 Mitochondrial RNA-metabolism insufficiency → lymphocyte differentiation insufficiency: 1 Mitochondrial RNA-metabolism insufficiency → autoinflammation: 1 Replication fork DNA-reannealing insufficiency → lymphocyte differentiation insufficiency: 1 JAK/STAT/SOCS-signaling imbalance → T- and B-cell differentiation insufficiency: 1 Glycosylation insufficiency → lymphocyte differentiation insufficiency: 1 Folate cycle insufficiency → lymphocyte survival insufficiency: 1 Store-operated calcium-entry insufficiency → T- and B-cell activation insufficiency: 1 TLR7-ligand availability imbalance → pDC hyperactivity: 1 TLR7-ligand availability imbalance → autoinflammation: 1 BAFF/APRIL/BLYS:TACI-signaling insufficiency → B-cell activation insufficiency: 1 TWEAK:TWEAKR-signaling insufficiency → T- and B-cell activation insufficiency: 1 Transcriptional co-factor insufficiency → B-cell differentiation insufficiency: 1 Actin-cytoskeleton insufficiency → B-cell differentiation insufficiency: 1 Actin-cytoskeleton insufficiency → T- and B-cell differentiation insufficiency: 1 BAFF/APRIL/BLYS:TACI-signaling insufficiency → B-cell activation insufficiency: 1 JAK/STAT/SOCS-signaling imbalance → autoinflammation: 1 AIRE-expression insufficiency → thymic negative selection insufficiency (APECED): 1 Ubiquitination-insufficiency → unclear: 1 Ubiquitination-insufficiency → autoinflammation: 1 Protein homeostasis-insufficiency → lymphocyte survival insufficiency: 1 Collagen homeostasis-insufficiency → unclear: 1 PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency → Treg:Teff co-signaling insufficiency: 1 FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency → lymphocyte apoptosis and necroptosis-insufficiency: 1 NADPH-oxidase insufficiency → immune complex and/or apoptotic debris clearance insufficiency: 1 IL-1-family imbalance → myeloid and lymphoid cell hyperactivity: 1 IL-1-family imbalance → autoinflammation: 1 Complement tagging insufficiency → immune complex and/or apoptotic debris clearance insufficiency: 1 Complement tagging insufficiency → myeloid and lymphoid cell hyperactivity: 1 Complement tagging insufficiency → autoinflammation: 1 AIHA: 49 LAT: 3 SLP76: 1 RAG1,2: 9 ITP: 53 DCLRE1C: 1 NHEJ1: 4 thyroiditis: 32 dermatitis: 22 ADA: 6 AIN: 23 granuloma(-tosis): 6 PRKCD: 3 aplastic anemia: 2 vitiligo: 12 alopecia: 13 neuropathy: 2 myopathy: 1 AITTP: 1 arthritis: 24 LIG4: 5 nephritis: 16 pneumonitis: 6 T1D: 14 CD40LG: 6 hepatitis: 19 ICOS: 6 CD3G: 5 ZAP70: 3 ZAP70/HM-GOF: 3 FVIII-AAB: 1 IKZF2: 2 SLE/SLE-like: 13 DOCK8: 6 uveitis: 3 vasculitis: 9 STK4: 6 TRAC: 3 LCK: 3 ITK: 5 MALT1: 3 CARD11: 8 IKBKB-LOF: 3 CHUK: 2 CK-AAB: 2 MAP3K14: 2 RELB: 3 MSN: 3 TTP: 1 TFRC: 4 SASH3: 5 WAS: 10 enteropathy: 27 myositis: 2 WIPF1: 2 ARPCB1: 6 ATM: 6 DNMT3B: 3 POLE2: 2 Del22q11.2, TBX1: 6 FOXN1: 3 nail dystrophy: 1 Del11q23del: 3 RMRP: 8 nephropathy: 1 SMARCAL1: 4 STAT3-DN: 1 PGM3: 4 MTHFD1: 2 IKBKB-GOF: 2 ORAI1: 2 STIM1: 2 PNP: 5 PSC: 1 STAT5B: 6 ILD: 8 KMT2D: 5 KDM6A: 5 PIK3CD: 8 pancreatitis: 3 PIK3R1: 8 PTEN: 3 CD19: 1 CD81: 3 TNFRSF13B: 9 urticaria: 1 parotitis: 1 TNFSF12: 2 NFKB1: 10 NFKB2: 4 IKZF1: 10 IRF2BP2: 1 ARHGEF1: 1 RAC2: 2 PIK3CG: 5 AICDA: 7 UNG: 1 CTNNBL1: 3 TNFSF13: 2 CARD11-GOF: 4 Polyendocrinopathy: 2 FOXP3: 10 hypophysitis: 1 adrenitis: 2 IPEX-like: 2 IL2RA,B: 2 CTLA4: 6 LRBA: 6 DEF6: 3 STAT3-GOF: 8 BACH2: 3 dermatomyositis: 2 AIRE: 11 parathyroiditis: 1 gonaditis: 1 CK-AAB, CMC: 1 IFN-AAB, severe COVID19: 1 IF-AAB, pernicious anemia: 1 ITCH: 7 TPP2: 3 JAK1: 3 PEPD: 3 SOCS1: 7 psoriasis: 1 PDCD1: 3 alveolitis: 1 FAS, FASL: 9 lymphoproliferation: 1 CASP10: 2 CASP8: 3 FADD: 3 encephalopathy: 1 hepatopathy: 1 TET2: 2 G6PC3: 3 G6PT1: 3 myasthenia gravis: 1 CYBB, CYBA, NCF1, NCF2: 8 APS: 1 SLE: 3 C1QA, B, C: 1 C4A, B: 1 C2: 1 C3: 1 TCR-signalosome insufficiency: 6 V(D)J-recombination insufficiency: 5 AIRE-expression insufficiency: 6 Purine metabolism insufficiency: 4 CD40:CD40L-signaling insufficiency: 1 T:B-cell co-signaling insufficiency: 3 ICOS:ICOSL-signaling insufficiency: 1 TCR-complex insufficiency: 2 Transcription factor insufficiency: 8 Actin-cytoskeleton insufficiency: 7 Hippo-signaling insufficiency: 1 CBM-signalosome insufficiency: 3 NFKB1-signaling imbalance: 3 NFKB2-signaling imbalance: 4 Transferrin uptake insufficiency: 1 TCR- and BCR-signalosome insufficiency: 1 DNA-damage sensing insufficiency: 1 DNA-methylation insufficiency: 2 DNA-replication insufficiency: 1 Contiguous gene syndrome: 2 Mitochondrial RNA-metabolism insufficiency: 2 Replication fork DNA-reannealing insufficiency: 1 JAK/STAT/SOCS-signaling imbalance: 5 Glycosylation insufficiency: 1 Folate cycle insufficiency: 1 Store-operated calcium-entry insufficiency: 2 TLR7-ligand availability imbalance: 2 IL-2-signalling imbalance: 3 Histone-methylation imbalance: 2 PIP3-signalling imbalance: 4 B-cell co-receptor-signaling insufficiency: 2 BAFF/APRIL/BLYS:TACI-signaling insufficiency: 2 B-cell co-signaling insufficiency: 2 TWEAK:TWEAKR-signaling insufficiency: 1 Transcriptional co-factor insufficiency: 1 Class-switch-recombination and somatic hypermutation insufficiency: 3 CTLA4-insufficiency: 3 Ubiquitination-insufficiency: 2 Protein homeostasis-insufficiency: 1 Collagen homeostasis-insufficiency: 1 PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency: 1 FASL:FAS-signaling insufficiency: 2 FASL:FAS- and TNF:TNFR-signaling insufficiency: 2 FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency: 1 Mitochondrial glucose utilization insufficiency: 2 NADPH-oxidase insufficiency: 1 IL-1-family imbalance: 2 Complement tagging insufficiency: 4 T-cell activation insufficiency: 8 T- and B-cell antigen receptor-repertoire diversity insufficiency: 15 lymphocyte survival insufficiency: 4 Treg insufficiency: 9 T- and B-cell activation insufficiency: 14 T- and B-cell differentiation insufficiency: 7 myeloid and lymphoid cell activation, differentiation, and migration insufficiency: 5 lymphocyte development insufficiency: 3 thymic stroma insufficiency: 3 lymphocyte differentiation insufficiency: 5 autoinflammation: 6 pDC hyperactivity: 1 T- and B-cell hyperactivity: 4 B-cell activation insufficiency: 6 B-cell differentiation insufficiency: 5 Treg:Teff co-signaling insufficiency: 4 Treg and Thelp differentiation insufficiency: 5 thymic negative selection insufficiency (APECED): 1 unclear: 2 lymphocyte apoptosis insufficiency: 4 lymphocyte apoptosis and necroptosis-insufficiency: 1 immune complex and/or apoptotic debris clearance insufficiency: 2 myeloid and lymphoid cell hyperactivity: 2 AIHA LAT SLP76 RAG1,2 ITP DCLRE1C NHEJ1 thyroiditis dermatitis ADA AIN granuloma(-tosis) PRKCD aplastic anemia vitiligo alopecia neuropathy myopathy AITTP arthritis LIG4 nephritis pneumonitis T1D CD40LG hepatitis ICOS CD3G ZAP70 ZAP70/HM-GOF FVIII-AAB IKZF2 SLE/SLE-like DOCK8 uveitis vasculitis STK4 TRAC LCK ITK MALT1 CARD11 IKBKB-LOF CHUK CK-AAB MAP3K14 RELB MSN TTP TFRC SASH3 WAS enteropathy myositis WIPF1 ARPCB1 ATM DNMT3B POLE2 Del22q11.2, TBX1 FOXN1 nail dystrophy Del11q23del RMRP nephropathy SMARCAL1 STAT3-DN PGM3 MTHFD1 IKBKB-GOF ORAI1 STIM1 PNP PSC STAT5B ILD KMT2D KDM6A PIK3CD pancreatitis PIK3R1 PTEN CD19 CD81 TNFRSF13B urticaria parotitis TNFSF12 NFKB1 NFKB2 IKZF1 IRF2BP2 ARHGEF1 RAC2 PIK3CG AICDA UNG CTNNBL1 TNFSF13 CARD11-GOF Polyendocrinopathy FOXP3 hypophysitis adrenitis IPEX-like IL2RA,B CTLA4 LRBA DEF6 STAT3-GOF BACH2 dermatomyositis AIRE parathyroiditis gonaditis CK-AAB, CMC IFN-AAB, severe COVID19 IF-AAB, pernicious anemia ITCH TPP2 JAK1 PEPD SOCS1 psoriasis PDCD1 alveolitis FAS, FASL lymphoproliferation CASP10 CASP8 FADD encephalopathy hepatopathy TET2 G6PC3 G6PT1 myasthenia gravis CYBB, CYBA, NCF1, NCF2 APS SLE C1QA, B, C C4A, B C2 C3 TCR-signalosome insufficiency V(D)J-recombination insufficiency AIRE-expression insufficiency Purine metabolism insufficiency CD40:CD40L-signaling insufficiency T:B-cell co-signaling insufficiency ICOS:ICOSL-signaling insufficiency TCR-complex insufficiency Transcription factor insufficiency Actin-cytoskeleton insufficiency Hippo-signaling insufficiency CBM-signalosome insufficiency NFKB1-signaling imbalance NFKB2-signaling imbalance Transferrin uptake insufficiency TCR- and BCR-signalosome insufficiency DNA-damage sensing insufficiency DNA-methylation insufficiency DNA-replication insufficiency Contiguous gene syndrome Mitochondrial RNA-metabolism insufficiency Replication fork DNA-reannealing insufficiency JAK/STAT/SOCS-signaling imbalance Glycosylation insufficiency Folate cycle insufficiency Store-operated calcium-entry insufficiency TLR7-ligand availability imbalance IL-2-signalling imbalance Histone-methylation imbalance PIP3-signalling imbalance B-cell co-receptor-signaling insufficiency BAFF/APRIL/BLYS:TACI-signaling insufficiency B-cell co-signaling insufficiency TWEAK:TWEAKR-signaling insufficiency Transcriptional co-factor insufficiency Class-switch-recombination and somatic hypermutation insufficiency CTLA4-insufficiency Ubiquitination-insufficiency Protein homeostasis-insufficiency Collagen homeostasis-insufficiency PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency FASL:FAS-signaling insufficiency FASL:FAS- and TNF:TNFR-signaling insufficiency FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency Mitochondrial glucose utilization insufficiency NADPH-oxidase insufficiency IL-1-family imbalance Complement tagging insufficiency T-cell activation insufficiency T- and B-cell antigen receptor-repertoire diversity insufficiency lymphocyte survival insufficiency Treg insufficiency T- and B-cell activation insufficiency T- and B-cell differentiation insufficiency myeloid and lymphoid cell activation, differentiation, and migration insufficiency lymphocyte development insufficiency thymic stroma insufficiency lymphocyte differentiation insufficiency autoinflammation pDC hyperactivity T- and B-cell hyperactivity B-cell activation insufficiency B-cell differentiation insufficiency Treg:Teff co-signaling insufficiency Treg and Thelp differentiation insufficiency thymic negative selection insufficiency (APECED) unclear lymphocyte apoptosis insufficiency lymphocyte apoptosis and necroptosis-insufficiency immune complex and/or apoptotic debris clearance insufficiency myeloid and lymphoid cell hyperactivity