Attenuated WAS
The long-term outlook is believed to be good. Long-term complications include a risk of severe bleeding and development of autoimmunity.[13]Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.
http://bloodjournal.hematologylibrary.org/content/103/2/456.long
http://www.ncbi.nlm.nih.gov/pubmed/12969986?tool=bestpractice.com
Severe WAS
The long-term outlook in the absence of curative bone marrow transplant has improved with the introduction of prophylactic therapy. Data are limited but suggest that survival into the third decade is unlikely.[13]Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.
http://bloodjournal.hematologylibrary.org/content/103/2/456.long
http://www.ncbi.nlm.nih.gov/pubmed/12969986?tool=bestpractice.com
Severe bleeding, especially intracranial bleeding, serious infections, and autoimmunity are major causes of morbidity and mortality.[1]O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387.
http://www.ncbi.nlm.nih.gov/pubmed/10224664?tool=bestpractice.com
[13]Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.
http://bloodjournal.hematologylibrary.org/content/103/2/456.long
http://www.ncbi.nlm.nih.gov/pubmed/12969986?tool=bestpractice.com
[6]Litzman J, Jones A, Hann I, et al. Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome. Arch Dis Child. 1996;75:436-439.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511781/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pubmed/8957959?tool=bestpractice.com
[32]Dupuis-Girod S, Medioni J, Haddad E, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111:e622-27.
http://www.ncbi.nlm.nih.gov/pubmed/12728121?tool=bestpractice.com
In addition, hematologic malignancies (lymphoma and myelodysplastic syndromes) complicate 10% to 20% of cases.[13]Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.
http://bloodjournal.hematologylibrary.org/content/103/2/456.long
http://www.ncbi.nlm.nih.gov/pubmed/12969986?tool=bestpractice.com
[6]Litzman J, Jones A, Hann I, et al. Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome. Arch Dis Child. 1996;75:436-439.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511781/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pubmed/8957959?tool=bestpractice.com
Bone marrow transplantation can be curative. Five-year survival rates have improved significantly over the past decade and now approach 90% for both matched sibling donors and fully matched unrelated donors. Transplant using mismatched family donors is generally avoided owing to historically poor survival rates (50% to 55%), although outcomes in this group are also improving.[33]Filipovich AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. 2001;97:1598-1603.
http://bloodjournal.hematologylibrary.org/content/97/6/1598.long
http://www.ncbi.nlm.nih.gov/pubmed/11238097?tool=bestpractice.com
[34]Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, et al. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood. 2008;111:439-445.
http://bloodjournal.hematologylibrary.org/content/111/1/439.long
http://www.ncbi.nlm.nih.gov/pubmed/17901250?tool=bestpractice.com
[35]Moratto D, Giliani S, Bonfim C, et al. Long-term outcome and lineage-specific
chimerism in 194 Wiskott-Aldrich syndrome patients treated by hematopoietic cell
transplantation between 1980-2009: an international collaborative study. Blood. 2011;118:1675-1684.
http://bloodjournal.hematologylibrary.org/content/118/6/1675.long
http://www.ncbi.nlm.nih.gov/pubmed/21659547?tool=bestpractice.com
[36]Elfeky RA, Furtado-Silva JM, Chiesa R, et al. One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years. J Allergy Clin Immunol. 2018 Jul 25. pii: S0091-6749(18)31059-5.
http://www.ncbi.nlm.nih.gov/pubmed/30055182?tool=bestpractice.com