Abstract
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Both autosomal recessive and autosomal dominant forms of hyper IgE syndrome (HIES) present with elevated IgE and recurrent skin infections
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Unlike the autosomal dominant HIES, patients with autosomal recessive HIES have a greater risk of atopy, viral skin infections, and malignancy
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While HIES clinical criteria help make a quick diagnosis and start therapy, a definitive diagnosis is pending on through genetic testing
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HSCT is now considered standard of care for DOCK8 deficiency given an appropriate donor is available
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References
Chan SK, Gelfand EW. Primary immunodeficiency masquerading as allergic disease. Immunol Allergy Clin N Am. 2015;35(4):767–78.
Pichard DC, Freeman AF, Cowen EW. Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis. J Am Acad Dermatol. 2015;73(3):355–64; quiz 65–6.
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM. Hyper-IgE syndrome with recurrent infections – an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692–702.
Mogensen TH. Primary immunodeficiencies with elevated IgE. Int Rev Immunol. 2016;35(1):39–56.
Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal O, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402–12.
Biggs CM, Keles S, Chatila TA. DOCK8 deficiency: insights into pathophysiology, clinical features and management. Clin Immunol. 2017;181:75–82.
Keles S, Charbonnier LM, Kabaleeswaran V, Reisli I, Genel F, Gulez N, Al-Herz W, Ramesh N, Perez-Atayde A, Karaca NE, Kutukculer N, Wu H, Geha RS, Chatila TA. Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation. J Allergy Clin Immunol. 2016;138(5):1384–94.e2.
Zhang Q, Dove CG, Hor JL, Murdock HM, Strauss-Albee DM, Garcia JA, Mandl JN, Grodick RA, Jing H, Chandler-Brown DB, Lenardo TE, Crawford G, Matthews HF, Freeman AF, Cornall RJ, Germain RN, Mueller SN, Su HC. DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med. 2014;211(13):2549–66.
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kutukculer N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal O, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Honig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Duckers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH, Inborn Errors Working Party of E. DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2015;35(2):189–98.
Zhang Q, Jing H, Su HC. Recent advances in DOCK8 immunodeficiency syndrome. J Clin Immunol. 2016;36(5):441–9.
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Dimitriades, V.R., Freeman, A.F. (2019). Recurrent Infections and Widespread Warts. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_44
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