Archivos suplementarios
Palabras clave
DOCK-8
Síndrome hiper-IgE
STAT-3
Resumen
En la Clasificación de las Inmunodeficiencias Primarias, el síndrome hiper-IgE, identificado con el código OMIM #147060 en el Catálogo Online Mendelian Inheritance in Man, pertenece al grupo de las inmunodeficiencias combinadas asociadas a síndromes. Se caracteriza por elevación de la concentración de IgE, eosinofilia, abscesos recurrentes en piel, neumonías, lesiones en parénquima pulmonar, infecciones recurrentes, erupciones en el recién nacido, eccema, sinusitis, otitis y candidiasis mucocutáneas. El síndrome hiper-IgE puede ser transmitido hereditariamente en forma autosómica dominante o autosómica recesiva. El síndrome hiper-IgE en su forma dominante incluye manifestaciones no inmunológicas como facies característica, dentición patológica, escoliosis, alteraciones óseas e hiperextensibilidad articular. La causa identificada en la forma dominante es la pérdida de la función del transductor de señales y activador de la transcripción 3 (STAT-3, MIM #102582). Las mutaciones en la proteína dedicada a las citocinesis 8 (DOCK-8)
Referencias
Conley ME, Notarangelo LD, Casanova JL. Definition of primary immunodeficiency in 2011: A “trialogue” among friends. Ann N Y Acad Sci. 2011;1238:1-6. doi: 10.1111/j.1749-6632.2011.06212.x
Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;5:162.
Davis SD, Schaller J, Wedgwood RJ. Job’s syndrome. Recurrent, “cold”, staphylococcal abscesses. Lancet. 1966;1(7445):1013-1015.
Minegishi Y. Hyper-IgE syndrome. Curr Opin Immunol. 2009;21(5):487-492. doi: 10.1016/j.coi.2009.07.013
Minegishi Y, Saito M. Cutaneous manifestations of hyper IgE syndrome. Allergol Int. 2012;61(2):191- 196. doi: 10.2332/allergolint.12-RAI-0423
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608-1619.
Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 2009;65(5 Pt 2):32R-37R. doi: 10.1203/PDR.0b013e31819dc8c5
Freeman AF, Avila EM, Shaw PA, Davis J, Hsu AP, Welch P, et al. Coronary artery abnormalities in hyper-IgE syndrome. J Clin Immunol. 2011;31(3):338-345. doi: 10.1007/s10875-011-9515-9.
Heimall J, Freeman A, Holland SM. Pathogenesis of hyper IgE syndrome. Clin Rev Allergy Immunol. 2010;38(1):32-38. doi: 10.1007/s12016-009-8134-1
Freeman AF, Holland SM. Clinical manifestations of hyper IgE syndromes. Dis Markers. 2010;29(3- 4):123-130. doi: 10.3233/DMA-2010-0734
Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, et al. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol. 2010;126(3):611-617.e1. doi: 10.1016/j.jaci.2010.06.029
Renner ED, Torgerson TR, Rylaarsdam S, Anover-Sombke S, Golob K, LaFlam T, et al. STAT3 mutation in the original patient with Job’s syndrome. N Engl J Med. 2007;357(16):1667-1668.
Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, et al. Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol. 2013;131(6):1586-1593. doi: 10.1016/j.jaci.2013.02.038
Alcántara-Montiel JC, Staines-Boone T, López-Herrera G, Ruiz LB, Borrego-Montoya CR, Santos- Argumedo L. Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome. Eur J Immunol. 2016;46(10):2438-2443. doi: 10.1002/eji.201546275
Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424-432.e428.
Freeman AF, Davis J, Hsu AP, Holland SM, Puck JM. Autosomal dominant hyper IgE syndrome. En: Pagon RA, Bird TD, Dolan CR, Stephens K, editores. GeneReviews. Seattle, WA: University of Washington; 1993.
Chandrasekaran P, Zimmerman O, Paulson M, Sampaio EP, Freeman AF, Sowerwine KJ, et al. Distinct mutations at the same positions of STAT3 cause either loss or gain of function. J Allergy Clin Immunol. 2016;138(4):1222-1224.e2. doi: 10.1016/j.jaci.2016.05.007
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Lango Allen H, De Franco E, et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet. 2014;46(8):812-814. doi: 10.1038/ng.304
Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058-1062.
Aaronson DS, Horvath CM. A road map for those who don’t know JAK-STAT. Science. 2002;296(5573):1653-1655. doi: 10.1126/science.1071545
Levy DE, Loomis CA. STAT3 signaling and the hyper-IgE syndrome. N Engl J Med 2007;357(16):1655- 1658. doi: 10.1056/NEJMe078197
Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al. Genetic linkage of hyper- IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65(3):735-744. doi: 10.1086/302547
Choi JY, Li WL, Kouri RE, Yu J, Kao FT, Ruano G. Assignment of the acute phase response factor (APRF) gene to 17q21 by microdissection clone sequencing and fluorescence in situ hybridization of a P1 clone. Genomics. 1996;37(2):264-265.
Kretzschmar AK, Dinger MC, Henze C, Brocke-Heidrich K, Horn F. Analysis of Stat3 (signal transducer and activator of transcription 3) dimerization by fluorescence resonance energy transfer in living cells. Biochem J. 2004;377(Pt 2):289-297. doi: 10.1042/BJ20030708
Huang Y, Qiu J, Dong S, Redell MS, Poli V, Mancini MA, et al. Stat3 isoforms, alpha and beta, demonstrate distinct intracellular dynamics with prolonged nuclear retention of Stat3beta mapping to its unique C-terminal end. J Biol Chem. 2007;282(48):34958-34967.
Heinrich PC, Behrmann I, Muller-Newen G, Schaper F, Graeve L. Interleukin-6-type cytokine signalling through the gp130/Jak/STAT pathway. Biochem J. 1998;334(Pt 2):297-314.
Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: A distinct disease entity. J Pediatr. 2004;144(1):93-99.
McGhee SA, Chatila TA. DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction. Dis Markers. 2010;29(3-4):151-156. doi: 10.3233/DMA-2010-0740
Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers. 2010;29(3-4):131-139. doi: 10.3233/DMA-2010-073
Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, López-Herrera G, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124(6):1289-1302.e4. doi: 10.1016/j.jaci.2009.10.038
Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402-412. doi: 10.1016/j.jaci.2014.12.1945
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients. J Clin Immunol. 2015;35(2):189-198. doi: 10.1007/s10875-014-0126-0
Nishikimi A, Meller N, Uekawa N, Isobe K, Schwartz MA, Maruyama M. Zizimin2: a novel, DOCK180- related Cdc42 guanine nucleotide exchange factor expressed predominantly in lymphocytes. FEBS Lett. 2005;579(5):1039-1046.
Nishikimi A, Kukimoto-Niino M, Yokoyama S, Fukui Y. Immune regulatory functions of DOCK family proteins in health and disease. Exp Cell Res. 2013;319(15):2343-2349. doi: 10.1016/j. yexcr.2013.07.024
Cote JF, Vuori K. GEF what? Dock180 and related proteins help Rac to polarize cells in new ways. Trends Cell Biol. 2007;17(8):383-393.
Premkumar L, Bobkov AA, Patel M, Jaroszewski L, Bankston LA, Stec B, et al. Structural basis of membrane targeting by the Dock180 family of Rho family guanine exchange factors (Rho-GEFs). J Biol Chem. 2010;285(17):13211-13222. doi: 10.1074/jbc.M110.102517
Zhang Q, Dove CG, Hor JL, Murdock HM, Strauss-Albee DM, Garcia JA, et al. DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med. 2014;211(13):2549-2566. doi: 10.1084/ jem.20141307
Ruusala A, Aspenstrom P. Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology. FEBS Lett. 2004;572(1-3):159-166.
Harada Y, Tanaka Y, Terasawa M, Pieczyk M, Habiro K, Katakai T, et al. DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood 2012;119(19):4451-4461. doi: 10.1182/blood-2012-01-407098
Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, et al. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol. 2012;13(6):612-620. doi: 10.1038/ni.2305
Werner M, Jumaa H. DOCKing innate to adaptive signaling for persistent antibody production. Nat Immunol. 2012;13(6):525-526. doi:10.1038/ni.2317
Ham H, Guerrier S, Kim J, Schoon RA, Anderson EL, Hamann MJ, et al. Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity. J Immunol. 2013;190(7):3661-3669. doi: 10.4049/jimmunol.1202792
Su HC. Dedicator of cytokinesis 8 (DOCK8) deficiency. Curr Opin Allergy Clin Immunol. 2010;10(6):515- 520. doi: 10.1097/ACI.0b013e32833fd718
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014;133(5):1400-1409, 1409.e1-1409.e5. doi: 10.1016/j.jaci.2014.02.013
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014;133(5):1410-1419, 1419 e1411-e1413. doi: 10.1016/j.jaci.2014.02.025
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.
Derechos de autor 2016 Revista Alergia México