Table 2. IEIs affecting central B cell... | Rockefeller University Press

Table 2.

IEIs affecting central B cell tolerance

Disease	Genetic defect	Inheritance	Effect	OMIM	Reference
BTK deficiency, X-linked agammaglobulinemia	BTK	XL	LOF	300300	(39)
RAG1 deficiency	RAG1	AR	Hypomorphic	-	(67)
RAG deficiency	RAG2	AR	Hypomorphic	-	(67)
ADA deficiency	ADA	AR	LOF	608958	(68)
PKCδ deficiency	PRKCD	AR	LOF	176977	(69)
AID deficiency	AICDA	AR	LOF	605257	(70)
TACI deficiency	TNFRSF13B	AD or AR	LOF	604907	(71)
UNC93B1 deficiency^{^a}	UNC93B1	AR	LOF	608204	(72)
IRAK4 deficiency^{^a}	IRAK4	AR	LOF	606883
MyD88 deficiency^{^a}	MYD88	AR	LOF	602170

Disease	Genetic defect	Inheritance	Effect	OMIM	Reference
BTK deficiency, X-linked agammaglobulinemia	BTK	XL	LOF	300300	(39)
RAG1 deficiency	RAG1	AR	Hypomorphic	-	(67)
RAG deficiency	RAG2	AR	Hypomorphic	-	(67)
ADA deficiency	ADA	AR	LOF	608958	(68)
PKCδ deficiency	PRKCD	AR	LOF	176977	(69)
AID deficiency	AICDA	AR	LOF	605257	(70)
TACI deficiency	TNFRSF13B	AD or AR	LOF	604907	(71)
UNC93B1 deficiency^a	UNC93B1	AR	LOF	608204	(72)
IRAK4 deficiency^a	IRAK4	AR	LOF	606883
MyD88 deficiency^a	MYD88	AR	LOF	602170

AR, autosomal recessive; XL, X-linked.

Patients with UNC93B1, IRAK4, or MyD88 deficiency do not show clinical manifestations of autoimmunity.