Síndrome de Wiskott-Aldrich Online (Wiskott-Aldrich Syndrome)

¨A síndrome de Wiskott Aldrich (WAS) é uma doença primária de imunodeficiência ligada ao X que resulta em infecções recorrentes, eczema e microtrombocitopenia. Em sua forma clássica, deficiência imunológica combinada significativa, complicações autoimunes e risco de malignidade hematológica exigem correção precoce com transplante de células-tronco ou terapia gênica. Uma forma mais leve, a trombocitopenia ligada ao X (XLT), compartilha um risco semelhante de sangramento da trombocitopenia, mas não está associada a outras características clínicas significativas e é geralmente administrada conservadoramente.¨

■ How I manage patients with Wiskott Aldrich syndrome

E Rivers, A Worth, A J Thrasher, S O Burns

British Journal of Haematology march 2019

https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.15831

■ Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult

Emma C. Morris, Thomas Fox, Ronjon Chakraverty et al

Blood. 2017 Sep 14; 130(11): 1327–133

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813727/

■ Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation

Lucia Sereni, Maria Carmina Castiello, Francesco Marangoni et al

J Allergy Clin Immunol. 2018 Oct; 142(4): 1272–1284

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078823/

■ Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

Pamela P. Lee, Damián Lobato-Márquez, Nayani Pramanik et al

Nat Commun. 2017; 8: 1576.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5691069/

■ A risk factor analysis of outcomes aftere unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome

Zhanna Shekhovtsova, Carmem Bonfim, Annalisa Ruggeri, et al

Haematologica. 2017 Jun; 102(6): 1112–1119

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451344/

■ Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

Takashi Ohya, Masakatsu Yanagimachi, Kentaro Iwasawa et al

World J Gastroenterol. 2017 Dec 28; 23(48): 8544–8552

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752714/

■ Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells

Nikolai V. Kuznetsov, Bader Almuzzaini, Joanna S. Kritikou et al

Genome Med. 2017; 9: 91

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660450/

■ Outcome following gene therapy in patients with severe Wiskott-Aldrich syndrome

Salima Hacein-Bey Abina, H. Bobby Gaspar, Johanna

JAMA. 2015, vol 313(15): 1550–1563

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942841/

■ Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome

Robert Sokolic, Neal Oden, Fabio Candotti

Front Pediatr. 2015; 3: 49

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450723/

■ Wiskott-Aldrich syndrome (WAS): a case report in Mauritius and review

K Ramphul, S Ramjuttun, V Poorun

International Journal of Pediactics 2015, vol 3 (3.1)

http://ijp.mums.ac.ir/article_4260.html

■ Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments

D Buchbinder, D J Nugent, A H Fillipovich

Appl Clin Genet 2014, vol 7: 55-66

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4012343/

■ Síndrome de Wikott-Aldrich: relato de caso

M S de Souza, S M M Amaral

Residencia Pediátrica 2011, vol 1 (2)

http://residenciapediatrica.com.br/detalhes/18/sindrome-de-wiskott-aldrich–relato-de-caso

■ Síndrome de Wiskott-Aldrich

I G Gonzalez, B T C Carvalho

Rev Bras Alerg Immunopatol 2011, vol 34 (2)

http://www.asbai.org.br/revistas/vol342/sindrome_34_2-16.pdf

■ Long-term outcomes and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

Daniele Moratto, Silvia Giliani, Carmem Bonfim et al

Blood. 2011 Aug 11; 118(6): 1675–1684

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156052/

■ Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report

Kostas N Syrigos, Nektaria Makrilia, Jeffrey Neidhart et al

Ital J Pediatr. 2011; 37: 42

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179709/

■ Stem-cell gene therapy for the Wiskott-Aldrich syndrome

Kaan Boztug, Manfred Schmidt, Adrian Schwarzer et al

N Engl J Med. 2010 Nov 11; 363(20): 1918–1927

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064520/

■ Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment