Table 6. Genes and medical complications... | American Society of Hematology

Table 6.

Genes and medical complications

Case no.*	Potential gene causes	Infection only	Lymphocytic/ granulomatous infiltrates	Enteropathy	Autoimmunity
NY275	PI3KCD		x		x
NY100	PI3KCD		x	x
NY615	PI3KCD	x
EX142	BTK	x
EX149	BTK	x
EX32	CARD11	x
NY504	CARD11	x
NY204	CARD11		x
NY549	CTLA4		x		x
NY263	CTLA4		x		x
NY682	CTLA4	x
NY528	CTLA4		x	x	x
NY649	CXCR4				x
NY650	CXCR4		x		x
EX613	DOCK8			x	x
EX553	DOCK8	x
EX546	FOXP3	x
EX583	FOXP3		x
EX587	FOXP3
EX590	FOXP3		x
NYEX9	IKZF1	x
NY182	IKZF1				x
NY546	IKZF1	x
NY657	IKZF1			x
NY52	KMT2D	x
EX409	KMT2D	x
NY249	KMT2D		x
NY19	KMT2D		x		x
NY554	KMT2D		x		x
EX19	LRBA		x
EX611	LRBA		x	x
EX623	LRBA			x
EX618	LRBA			x
EX145	LRBA		x	x
NY131	LRBA		x		x
NY248	LRBA		x		x
NY711	NFKB1	x
NY630	NFKB1	x
NY299	NFKB1	x
EX297	NFKB1		x
NY370	NFKB1		x
NY688	NFKB1	x
NY490	NFKB1		x	x	x
NY490A	NFKB1				x
NY643	NFKB1		x	x	x
NY584	NFKB1		x	x	x
NY334	NKFB1		x		x
NY203	NKFB1		x	x	x
NY272	NKFB1				x
NY378	NFKB2				x
NY736	PIK3R1		x
NY175	PIK3R1				x
EX631	PMS2		x
EX602	PMS2		x
EX619	PMS2	x
EX582	PTPRC		x	x
EX589	RAG1/2		x
EX595	RAG1/2	x
NY734	RAG1/2			x
NY543	STAT3		x	x	x
NY110	STAT3		x		x
NY465	STAT3		x	x	x
NY676	TACI			x
NY500	TACI	x
EX565	TACI				x
EX543	TACI		x		x
EX550	TACI		x
EX600	TACI	x
EX637	TACI	x
NY434	TACI				x
NY344	TACI		x		x
NY709	TACI	x
NY324	TACI	x
NY353	TACI	x
NY724	TACI	x
NY251	TACI	x
NY479	TACI	x
NY725	TACI	x
NY710	TACI				x
NY668	TACI	x
NY78	TACI				x
NY477	TACI		x	x	x
NY401	TACI			x
NY220	TACI	x
NY703	TACI		x
NY574	TACI		x
NY155	TACI		x		x
NY120	TACI		x		x
NY594	TACI		x		x
NY586	TACI		x		x
NY550	TACI		x		x
NY242	TACI		x		x
NY81	TACI		x		x
NY317	TACI		x
NY165	TACI	x
NY616	TCF3	x
NY550	TCF3		x		x
EX601	TINF2				x
EX624	TINF2		x
EX562	UNC93B1		x	x
EX635	UNC93B1	x
EX630	WAS	x

Case no.*	Potential gene causes	Infection only	Lymphocytic/ granulomatous infiltrates	Enteropathy	Autoimmunity
NY275	PI3KCD		x		x
NY100	PI3KCD		x	x
NY615	PI3KCD	x
EX142	BTK	x
EX149	BTK	x
EX32	CARD11	x
NY504	CARD11	x
NY204	CARD11		x
NY549	CTLA4		x		x
NY263	CTLA4		x		x
NY682	CTLA4	x
NY528	CTLA4		x	x	x
NY649	CXCR4				x
NY650	CXCR4		x		x
EX613	DOCK8			x	x
EX553	DOCK8	x
EX546	FOXP3	x
EX583	FOXP3		x
EX587	FOXP3
EX590	FOXP3		x
NYEX9	IKZF1	x
NY182	IKZF1				x
NY546	IKZF1	x
NY657	IKZF1			x
NY52	KMT2D	x
EX409	KMT2D	x
NY249	KMT2D		x
NY19	KMT2D		x		x
NY554	KMT2D		x		x
EX19	LRBA		x
EX611	LRBA		x	x
EX623	LRBA			x
EX618	LRBA			x
EX145	LRBA		x	x
NY131	LRBA		x		x
NY248	LRBA		x		x
NY711	NFKB1	x
NY630	NFKB1	x
NY299	NFKB1	x
EX297	NFKB1		x
NY370	NFKB1		x
NY688	NFKB1	x
NY490	NFKB1		x	x	x
NY490A	NFKB1				x
NY643	NFKB1		x	x	x
NY584	NFKB1		x	x	x
NY334	NKFB1		x		x
NY203	NKFB1		x	x	x
NY272	NKFB1				x
NY378	NFKB2				x
NY736	PIK3R1		x
NY175	PIK3R1				x
EX631	PMS2		x
EX602	PMS2		x
EX619	PMS2	x
EX582	PTPRC		x	x
EX589	RAG1/2		x
EX595	RAG1/2	x
NY734	RAG1/2			x
NY543	STAT3		x	x	x
NY110	STAT3		x		x
NY465	STAT3		x	x	x
NY676	TACI			x
NY500	TACI	x
EX565	TACI				x
EX543	TACI		x		x
EX550	TACI		x
EX600	TACI	x
EX637	TACI	x
NY434	TACI				x
NY344	TACI		x		x
NY709	TACI	x
NY324	TACI	x
NY353	TACI	x
NY724	TACI	x
NY251	TACI	x
NY479	TACI	x
NY725	TACI	x
NY710	TACI				x
NY668	TACI	x
NY78	TACI				x
NY477	TACI		x	x	x
NY401	TACI			x
NY220	TACI	x
NY703	TACI		x
NY574	TACI		x
NY155	TACI		x		x
NY120	TACI		x		x
NY594	TACI		x		x
NY586	TACI		x		x
NY550	TACI		x		x
NY242	TACI		x		x
NY81	TACI		x		x
NY317	TACI		x
NY165	TACI	x
NY616	TCF3	x
NY550	TCF3		x		x
EX601	TINF2				x
EX624	TINF2		x
EX562	UNC93B1		x	x
EX635	UNC93B1	x
EX630	WAS	x

Case numbers: NY case numbers are the US cohort; EX case numbers are the Swedish cohort.