Table 2

WAS mutations, WASp expression, and a summary of clinical manifestations in 26 patients with WAS and assignment of a score of 5 in the first 2 years of life

Patient no.Mutation descriptionWAS gene mutationWASp expressionAge at onset of score 5, moThrombo-cytopeniaHemorrhagesAIHAVasculitisTumorHSCTOverall outcome (cause of death), age at last follow-up
1 ND  ND 12.7 Severe refractory Intraoral; recurrent epistaxis; knee joint; brain Yes No No No HSCT Died, age 4 y (brain hemorrhage) 
2 p.Y107S Missense ND 6.2 Profound Severe otorrhagia; massive epistaxis Yes No No Haplo A/W, age 28 y 
3 c.1001delG Nonsense ND 9.2 Profound Severe hematotympanum Yes No No Haplo Died at M+3 (hemorrhagy) 
4 E452 fs X494 Nonsense ND 5.8 Mild No Yes No No 2 HSCT (haplo then MSD) Alive, age 24 y 
5 p.F114I Missense ND 22.3 Profound Brain; gut No Yes No URD Alive, age 22 y 
6 ND  ND 6.1 Severe refractory No Yes No No Haplo Died, at M+4 (TRM, GvHD, Infections) 
7 p.R34X Nonsense ND 11.2 Mild No No Yes No Haplo Alive, age 21 y 
8 c.1001delG Nonsense ND 10.2 Mild Intraoral Yes No No Haplo Died, M+1 (Viral pneumonitis) 
9 p.W97X Nonsense ND 14.2 Severe refractory No Yes Yes No URD A/W, age 14 y 
10 p.C73Y Missense ND 10.3 Profound No Yes No No MSD (UCB) A/W, age 13 y 
11 Del Exons 11–12 Deletion ND 3.1 Severe refractory Lung Yes No No No HSCT Died, age 4 mo (fulminant sepsis, lung hemorrhage) 
12 p.Asp132_Glu133del Missense Absent 14.2 Mild Gut; Retina Yes No Yes mMRD 9.5/10 A/W, age 11 y, thrombocytopenia resolved after splenectomy at M+4 
13 c.273 + 1G > A Splice site ND 2.9 Profound Brain Yes No No URD A/W, age 10 y 
14 Del Exons 1–2 Deletion ND 4.7 Severe refractory Intraoral; brain Yes No No No HSCT Died, age 15 mo (brain hemorrhage during conditioning regimen) 
15 Del Exons 1–7 Deletion Absent 3.1 Profound Gut No Yes No 2 HSCT (haplo then URD) Died, 3 y after HSCT (Enterobacter sepsis after abdominal surgery) 
16 c.360 + 1G > T Splice site ND 5.1 Severe refractory No No No No Haplo A/W, age 7 y 
17 p.Gly70_Ala71del Deletion Absent 22.6 Profound Brain Yes Yes No Haplo Top-up at M+4; A/W, age 6 y 
18 c.1429_1433del Nonsense Absent 9.5 Mild No No Yes No URD A/W, age 6 y 
19 p.N224G Missense Absent 6.4 Profound No Yes No No Haplo A/W, age 6 y 
20 Insertion 4bp Insertion ND 2.0 Severe refractory No No No No MRD Died, 3.5 y after HSCT (sepsis) 
21 c.1086delA Nonsense Absent 4.2 Severe refractory No Yes No No Haplo Top-up, M+4; A/W, age 5 y 
22 p.R41X Nonsense Absent 5.1 Severe refractory No No No No URD (UCB) A/W, age 3 y 
23 c.941delC Nonsense Absent 3.1 Severe refractory No No No No Haplo A/W, age 3 y 
24 p.L435X Nonsense Absent 9.1 Severe refractory Intraoral; macroscopic hematuria No No No URD A/W, age 3 y 
25 c.525delA Nonsense Absent 6.2 Severe refractory No No No No URD A/W, age 2 y 
26 c.360 + 1G > A Splice site ND 2.9 Severe refractory Brain No No No No HSCT Died, age 6 mo (brain hemorrhage) 
Patient no.Mutation descriptionWAS gene mutationWASp expressionAge at onset of score 5, moThrombo-cytopeniaHemorrhagesAIHAVasculitisTumorHSCTOverall outcome (cause of death), age at last follow-up
1 ND  ND 12.7 Severe refractory Intraoral; recurrent epistaxis; knee joint; brain Yes No No No HSCT Died, age 4 y (brain hemorrhage) 
2 p.Y107S Missense ND 6.2 Profound Severe otorrhagia; massive epistaxis Yes No No Haplo A/W, age 28 y 
3 c.1001delG Nonsense ND 9.2 Profound Severe hematotympanum Yes No No Haplo Died at M+3 (hemorrhagy) 
4 E452 fs X494 Nonsense ND 5.8 Mild No Yes No No 2 HSCT (haplo then MSD) Alive, age 24 y 
5 p.F114I Missense ND 22.3 Profound Brain; gut No Yes No URD Alive, age 22 y 
6 ND  ND 6.1 Severe refractory No Yes No No Haplo Died, at M+4 (TRM, GvHD, Infections) 
7 p.R34X Nonsense ND 11.2 Mild No No Yes No Haplo Alive, age 21 y 
8 c.1001delG Nonsense ND 10.2 Mild Intraoral Yes No No Haplo Died, M+1 (Viral pneumonitis) 
9 p.W97X Nonsense ND 14.2 Severe refractory No Yes Yes No URD A/W, age 14 y 
10 p.C73Y Missense ND 10.3 Profound No Yes No No MSD (UCB) A/W, age 13 y 
11 Del Exons 11–12 Deletion ND 3.1 Severe refractory Lung Yes No No No HSCT Died, age 4 mo (fulminant sepsis, lung hemorrhage) 
12 p.Asp132_Glu133del Missense Absent 14.2 Mild Gut; Retina Yes No Yes mMRD 9.5/10 A/W, age 11 y, thrombocytopenia resolved after splenectomy at M+4 
13 c.273 + 1G > A Splice site ND 2.9 Profound Brain Yes No No URD A/W, age 10 y 
14 Del Exons 1–2 Deletion ND 4.7 Severe refractory Intraoral; brain Yes No No No HSCT Died, age 15 mo (brain hemorrhage during conditioning regimen) 
15 Del Exons 1–7 Deletion Absent 3.1 Profound Gut No Yes No 2 HSCT (haplo then URD) Died, 3 y after HSCT (Enterobacter sepsis after abdominal surgery) 
16 c.360 + 1G > T Splice site ND 5.1 Severe refractory No No No No Haplo A/W, age 7 y 
17 p.Gly70_Ala71del Deletion Absent 22.6 Profound Brain Yes Yes No Haplo Top-up at M+4; A/W, age 6 y 
18 c.1429_1433del Nonsense Absent 9.5 Mild No No Yes No URD A/W, age 6 y 
19 p.N224G Missense Absent 6.4 Profound No Yes No No Haplo A/W, age 6 y 
20 Insertion 4bp Insertion ND 2.0 Severe refractory No No No No MRD Died, 3.5 y after HSCT (sepsis) 
21 c.1086delA Nonsense Absent 4.2 Severe refractory No Yes No No Haplo Top-up, M+4; A/W, age 5 y 
22 p.R41X Nonsense Absent 5.1 Severe refractory No No No No URD (UCB) A/W, age 3 y 
23 c.941delC Nonsense Absent 3.1 Severe refractory No No No No Haplo A/W, age 3 y 
24 p.L435X Nonsense Absent 9.1 Severe refractory Intraoral; macroscopic hematuria No No No URD A/W, age 3 y 
25 c.525delA Nonsense Absent 6.2 Severe refractory No No No No URD A/W, age 2 y 
26 c.360 + 1G > A Splice site ND 2.9 Severe refractory Brain No No No No HSCT Died, age 6 mo (brain hemorrhage) 

A/W indicates alive and well; Haplo, haploidentical donor (parent); mMRD, partially mismatched related donor; MRD, matched related donor; MSD, matched sibling donor; ND, not determined; TRM, transplantation-related mortality; UCB, umbilical cord blood; and URD, unrelated donor.

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