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Items: 18

1.

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency.

Mandola AB, Levy J, Nahum A, Hadad N, Levy R, Rylova A, Simon AJ, Lev A, Somech R, Broides A.

Immunol Invest. 2019 May;48(4):431-439. doi: 10.1080/08820139.2019.1567533. Epub 2019 Jan 28.

PMID:
30689480
2.

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Broides A, Mandola AB, Levy J, Yerushalmi B, Pinsk V, Eldan M, Shubinsky G, Hadad N, Levy R, Nahum A, Ben-Harosh M, Lev A, Simon A, Somech R.

Immunol Res. 2017 Jun;65(3):651-657. doi: 10.1007/s12026-016-8883-x.

PMID:
28070732
3.

Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation.

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.

J Allergy Clin Immunol. 2016 Nov;138(5):1384-1394.e2. doi: 10.1016/j.jaci.2016.04.023. Epub 2016 May 24.

4.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Engelhardt KR, Gertz ME, Keles S, Schäffer 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 Ö, 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.

J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.

5.

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler 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 Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers 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 EBMT.

J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28.

PMID:
25627830
6.

A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome.

Xue L, Yang Y, Wang S.

J Eur Acad Dermatol Venereol. 2015 Mar;29(3):599-601. doi: 10.1111/jdv.12394. Epub 2014 Feb 17.

PMID:
24673638
7.

Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.

aan de Kerk DJ, van Leeuwen EM, Jansen MH, van den Berg JM, Alders M, Vermont CL, van Lier RA, Pals ST, Kuijpers TW.

Clin Immunol. 2013 Oct;149(1):25-31. doi: 10.1016/j.clim.2013.06.002. Epub 2013 Jun 19.

PMID:
23891736
8.

Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation.

Siah TW, Gennery A, Leech S, Taylor A.

Clin Exp Dermatol. 2013 Mar;38(2):196-7. doi: 10.1111/j.1365-2230.2012.04447.x. Epub 2012 Oct 1. No abstract available.

PMID:
23020750
9.

Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.

Alsum Z, Hawwari A, Alsmadi O, Al-Hissi S, Borrero E, Abu-Staiteh A, Khalak HG, Wakil S, Eldali AM, Arnaout R, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Al-Saud B, Al-Mousa H.

J Clin Immunol. 2013 Jan;33(1):55-67. doi: 10.1007/s10875-012-9769-x. Epub 2012 Sep 12.

PMID:
22968740
10.

DOCK8 deficiency.

Su HC, Jing H, Zhang Q.

Ann N Y Acad Sci. 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. Review.

PMID:
22236427
11.

The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.

Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K.

Orphanet J Rare Dis. 2011 Nov 15;6:76. doi: 10.1186/1750-1172-6-76. Review.

12.

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, Keles S, Puck JM, Chatila T.

Clin Immunol. 2011 Nov;141(2):128-32. doi: 10.1016/j.clim.2011.06.003. Epub 2011 Jun 21.

13.

Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies.

Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE.

J Allergy Clin Immunol. 2011 Jun;127(6):1329-41.e2; quiz 1342-3. doi: 10.1016/j.jaci.2011.02.047. Epub 2011 Apr 22. Review.

PMID:
21514636
14.

Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.

Bittner TC, Pannicke U, Renner ED, Notheis G, Hoffmann F, Belohradsky BH, Wintergerst U, Hauser M, Klein B, Schwarz K, Schmid I, Albert MH.

Klin Padiatr. 2010 Nov;222(6):351-5. doi: 10.1055/s-0030-1265135. Epub 2010 Nov 5.

PMID:
21058221
15.

Dedicator of cytokinesis 8 (DOCK8) deficiency.

Su HC.

Curr Opin Allergy Clin Immunol. 2010 Dec;10(6):515-20. doi: 10.1097/ACI.0b013e32833fd718. Review.

16.

Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency.

McDonald DR, Massaad MJ, Johnston A, Keles S, Chatila T, Geha RS, Pai SY.

J Allergy Clin Immunol. 2010 Dec;126(6):1304-5.e3. doi: 10.1016/j.jaci.2010.07.034. No abstract available.

17.

Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation.

Gatz SA, Benninghoff U, Schütz C, Schulz A, Hönig M, Pannicke U, Holzmann KH, Schwarz K, Friedrich W.

Bone Marrow Transplant. 2011 Apr;46(4):552-6. doi: 10.1038/bmt.2010.169. Epub 2010 Jul 12.

PMID:
20622910
18.

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

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, Kutukculer N, Camcioğlu 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.

J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. Erratum in: J Allergy Clin Immunol. 2010 Mar;125(3):743. Kutuculer, Necil [corrected to Kutukculer, Necil].

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