Table 4 Summary of VWF storage and... | American Society of Hematology

Table 4

Summary of VWF storage and secretion for BOECs with VWD variants*

Mutation	VWD type	Total VWF production	Secretion				ER retention	WPB formation	VWF string formation	Secreted VWF multimers
			Basal	Stimulated
			Basal	PMA	His	Epi
p.Arg854Gln	2N	Normal/↓	Normal/↓	Normal	Normal	Normal	No	Normal	Normal	Normal
p.Ser1285Pro	1	↓↓↓	↓↓↓	↓↓	↓↓↓	↓↓↓	↑↑↑	Abnormal	Abnormal	Abnormal
p.Leu1307Pro	1 or 2A	↓↓↓	↓↓↓	↓	↓↓↓	↓↓	↑↑↑	Abnormal	Abnormal	Abnormal
p.Tyr1584Cys	1	Normal	Normal	Normal	Normal	Normal	No	Normal	Normal	Normal
p.Cys2693Tyr	1	Normal	Normal/↓	↓	↓↓	↓	↑	Abnormal†	Normal‡	Normal

Mutation	VWD type	Total VWF production	Secretion				ER retention	WPB formation	VWF string formation	Secreted VWF multimers
			Basal	Stimulated
			Basal	PMA	His	Epi
p.Arg854Gln	2N	Normal/↓	Normal/↓	Normal	Normal	Normal	No	Normal	Normal	Normal
p.Ser1285Pro	1	↓↓↓	↓↓↓	↓↓	↓↓↓	↓↓↓	↑↑↑	Abnormal	Abnormal	Abnormal
p.Leu1307Pro	1 or 2A	↓↓↓	↓↓↓	↓	↓↓↓	↓↓	↑↑↑	Abnormal	Abnormal	Abnormal
p.Tyr1584Cys	1	Normal	Normal	Normal	Normal	Normal	No	Normal	Normal	Normal
p.Cys2693Tyr	1	Normal	Normal/↓	↓	↓↓	↓	↑	Abnormal†	Normal‡	Normal

PMA, phorbol-12-myristate-13-acetate; His, histamine; and Epi, epinephrine (combined with isobutylmethylxanthine).

As compared with BOECs derived from healthy donors.

Heterogeneous population of WPB; some WPB are morphologically normal (elongated).

Morphologically normal but reduced in quantity.