Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency-Reference-Cited by-同舟云学术

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

Published:2012-04-04 Issue:4 Volume:32 Page:698-708
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Sanal Ozden,Jing Huie,Ozgur Tuba,Ayvaz Deniz,Strauss-Albee Dara M.,Ersoy-Evans Sibel,Tezcan Ilhan,Turkkani Gulten,Matthews Helen F.,Haliloglu Goknur,Yuce Aysel,Yalcin Bilgehan,Gokoz Ozay,Oguz Kader K.,Su Helen C.

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-012-9664-5.pdf

Reference23 articles.

1. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361:2046–55.

2. Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutuculer N, Camcioglu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA. 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;124:1289–1302.e1284.

3. Zhang Q, Su HC. Hyperimmunoglobulin E syndromes in pediatrics. Curr Opin Pediatr. 2011;23:653–8.

4. Su HC, Jing H, Zhang Q. DOCK8 deficiency. Ann N Y Acad Sci. 2011;1246:26–33.

5. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144:93–9.

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