Table I.

WAS gene mutations and clinical status of WAS patients

Patient	Age (yr)a	Mutation type	gDNA mutation	Protein change	Scoreb	Thrombo- cytopenia	T cell lymphopenia	Eczema	Infections	Autoimmunity
WAS1	24	Splice Intron 9	IVS9 +2 del tgag	ND	4	Yes	No	Mild	Severe HSV, pneumonia	No
WAS4	23	Deletion Exon 6	570del t	fs stop aa260	5	Yesc	Yes	Mild	Various and recurrent infections	Vasculitis, arthritis, IgA nephropathy
WAS13	13.8	Missense Exon 1	150t>c	L39P	2	Yesc	Yes	Mild	No	No
WAS14	1.8	Missense Exon 4	431g>a	E133K	5	Yes	Yes	Mild	No	Colitis, vasculitisd
WAS17	2.8	Splice Intron 8	IVS8 +1 del gtga	fs stop aa246	4	Yes	No	Severe	Recurrent otitis, pneumonia	No
WAS21	18	Missense Exon 7	741c>g	A236G	2	Yesc	Yes	No	Recurrent otitis	No
WAS22	19	Missense Exon 2	201c>t	A56V	1	Yes	No	No	No	No

fs, frameshift; del, deletion; IVS, intervening sequence (intron); ND, not determined.

^aAge refers to the time of blood sampling.

^bDisease score is given according to the classification reported previously (reference 34).

^cSplenectomized.

^dPatient undergoing therapy with prednisone.