Resumen
El síndrome de Wiskott Aldrich fue descrito en 1937 y en 1954 se identificó su tríada característica: eccema, infecciones recurrentes y trombocitopenia, con herencia ligada al cromosoma X. Su incidencia se calcula en 1 a 10 por cada millón de recién nacidos vivos por año. Su causa es la mutación del gen localizado en el brazo corto del cromosoma X, que codifica la proteína del síndrome Wiskott-Aldrich (WASp), cuya identificación y secuenciación se realizan desde 1994, lo que ha permitido describir al menos 300 defectos genéticos. Comunicamos un caso de síndrome de Wiskott-Aldrich con diagnóstico clínico y genético, tipo nonsense Q203X, en el exón 7, en un preescolar con ausencia de eccema.
Referencias
Binder V, Albert MH, Kabus M, Bertone M, et al. The genotype of the original Wiskott phenotype. N Engl J Med 2006;355:1790-1793.
Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954;13:133-139.
Puck JM, Candotti F. Lessons from the Wiskott-Aldrich syndrome. N Engl J Med 2006;355:1759-1761.
Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994;125:876-885.
Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood 2009;113:6288-6295.
Thrasher AJ, Burns SO. Reviews WASP: a key immunological multitasker. Nat Rev Immunol 2010;10:182-192.
Thrasher AJ. New insights into the biology of Wiskott- Aldrich syndrome (WAS). Hematology Am Soc Hematol Educ Program 2009:132-138.
Notarangelo LD, Ochs HD. Wiskott-Aldrich syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol 2003;15:585-591.
Kirchhausen T, Rosen FS. Disease mechanism: unravelling Wiskott-Aldrich syndrome. Curr Biol 1996;6:676-678.
Ochs HD. The Wiskott-Aldrich syndrome. Isr Med Assoc J 2002;4:379-384.
Imai K, Nonoyama S, Ochs HD. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 2003;3:427-436.
Moratto D, Giliani S, Notarangelo LD, Mazza C, et al. The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment. Expert Rev Clin Immunol 2007;3:813-824.
Aiuti A, Biasco L, Scaramuzza S, Ferrua F, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science 2013;341:1233151.
Boonyawat B, Dhanraj S, Abbas F, et al. Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. J Clin Immunol 2013;33:1150-1155.
Imai K, Morio T, Zhu Y, Jin Y, et al. Clinical course of patients with WASP gene mutations. Blood 2004;103:456-464.
Nguyen DD, Muthupalani S, Goettel JA, Eston MA, et al. Colitis and colon cancer in WASP-deficient mice require helicobacter species. Inflamm Bowel Dis 2013;19:2041- 2450.
Nguyen DD, Wurbel MA, Goettel JA, Eston MA, et al. Wiskott-Aldrich syndrome protein deficiency in innate immune cells leads to mucosal immune dysregulation and colitis in mice. Gastroenterology 2012;143:719-729.
Becker-Herman S, Meyer-Bahlburg A, Schwartz MA, Jackson SW, et al. WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity. J Exp Med 2011;208:2033- 2042.
Moratto D, Giliani S, Bonfim C, Mazzolari E, et al. Longterm outcome 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. Blood 2011;118:1675- 1684.
Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, 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.
Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954;13:133-139.
Puck JM, Candotti F. Lessons from the Wiskott-Aldrich syndrome. N Engl J Med 2006;355:1759-1761.
Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994;125:876-885.
Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood 2009;113:6288-6295.
Thrasher AJ, Burns SO. Reviews WASP: a key immunological multitasker. Nat Rev Immunol 2010;10:182-192.
Thrasher AJ. New insights into the biology of Wiskott- Aldrich syndrome (WAS). Hematology Am Soc Hematol Educ Program 2009:132-138.
Notarangelo LD, Ochs HD. Wiskott-Aldrich syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol 2003;15:585-591.
Kirchhausen T, Rosen FS. Disease mechanism: unravelling Wiskott-Aldrich syndrome. Curr Biol 1996;6:676-678.
Ochs HD. The Wiskott-Aldrich syndrome. Isr Med Assoc J 2002;4:379-384.
Imai K, Nonoyama S, Ochs HD. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 2003;3:427-436.
Moratto D, Giliani S, Notarangelo LD, Mazza C, et al. The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment. Expert Rev Clin Immunol 2007;3:813-824.
Aiuti A, Biasco L, Scaramuzza S, Ferrua F, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science 2013;341:1233151.
Boonyawat B, Dhanraj S, Abbas F, et al. Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. J Clin Immunol 2013;33:1150-1155.
Imai K, Morio T, Zhu Y, Jin Y, et al. Clinical course of patients with WASP gene mutations. Blood 2004;103:456-464.
Nguyen DD, Muthupalani S, Goettel JA, Eston MA, et al. Colitis and colon cancer in WASP-deficient mice require helicobacter species. Inflamm Bowel Dis 2013;19:2041- 2450.
Nguyen DD, Wurbel MA, Goettel JA, Eston MA, et al. Wiskott-Aldrich syndrome protein deficiency in innate immune cells leads to mucosal immune dysregulation and colitis in mice. Gastroenterology 2012;143:719-729.
Becker-Herman S, Meyer-Bahlburg A, Schwartz MA, Jackson SW, et al. WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity. J Exp Med 2011;208:2033- 2042.
Moratto D, Giliani S, Bonfim C, Mazzolari E, et al. Longterm outcome 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. Blood 2011;118:1675- 1684.
Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, 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.
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.
Derechos de autor 2014 Revista Alergia México
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