Table 1. IEI associated with AAN-I-IFN... | Rockefeller University Press

Table 1.

IEI associated with AAN-I-IFN

IEI	Affected gene (inheritance)	Primary cellular defect	Prevalence AAN-I-IFN	AAN against other cytokines
APS-1	AIRE (AR)	AIRE⁺ mTEC	97%	IL-17A, IL-17F, IL-22, IFN-λ1
RAG deficiency	RAG1 or RAG2 (AR)	T-lymphocytes	50%	TNF-α, IL-1Ra, IL-6, IL-12p70, IL-17A, IL-17B, IL-17D, CCL1, IFN-γ, IFN-λ 1, IFN-λ2
IPEX	FOXP3 (X-linked recessive)	Treg	83%	IL-17A
NF-κB2 deficiency^{^a}	NFKB2 (AD)	AIRE⁺ mTEC	59%
NIK deficiency	NIK (AR)	AIRE⁺ mTEC	100%
RELB deficiency	RELB (AR)	AIRE⁺ mTEC	87%
IP	NEMO (X-linked dominant)	?	36%

IEI	Affected gene (inheritance)	Primary cellular defect	Prevalence AAN-I-IFN	AAN against other cytokines
APS-1	AIRE (AR)	AIRE⁺ mTEC	97%	IL-17A, IL-17F, IL-22, IFN-λ1
RAG deficiency	RAG1 or RAG2 (AR)	T-lymphocytes	50%	TNF-α, IL-1Ra, IL-6, IL-12p70, IL-17A, IL-17B, IL-17D, CCL1, IFN-γ, IFN-λ 1, IFN-λ2
IPEX	FOXP3 (X-linked recessive)	Treg	83%	IL-17A
NF-κB2 deficiency^a	NFKB2 (AD)	AIRE⁺ mTEC	59%
NIK deficiency	NIK (AR)	AIRE⁺ mTEC	100%
RELB deficiency	RELB (AR)	AIRE⁺ mTEC	87%
IP	NEMO (X-linked dominant)	?	36%

p52^LOF/IκBδ^GOF deficiency. AR autosomal recessive. AD autosomal dominant.