Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 32

1.

DOCK8 deficiency in six Iranian patients.

Saghafi S, Pourpak Z, Nussbaumer F, Fazlollahi MR, Houshmand M, Hamidieh AA, Bemanian MH, Nabavi M, Parvaneh N, Grimbacher B, Moin M, Glocker C.

Clin Case Rep. 2016 May 17;4(6):593-600. doi: 10.1002/ccr3.574. eCollection 2016 Jun.

2.

[Hyper-immunoglobulin E syndrome: report of one case].

Aguilera G, Cárcamo G, Sepúlveda J, Vinet AM, Martínez C.

Rev Med Chil. 2015 Jun;143(6):801-4. doi: 10.4067/S0034-98872015000600014. Spanish.

3.

The diagnosis of hyper immunoglobulin e syndrome based on project management.

Saghafi S, Pourpak Z, Glocker C, Nussbaumer F, Babamahmoodi A, Grimbacher B, Moin M.

Iran J Allergy Asthma Immunol. 2015 Apr;14(2):126-32.

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.

Hyper-IgE syndromes: reviewing PGM3 deficiency.

Yang L, Fliegauf M, Grimbacher B.

Curr Opin Pediatr. 2014 Dec;26(6):697-703. doi: 10.1097/MOP.0000000000000158. Review.

PMID:
25365149
7.

Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus.

Jouhadi Z, Khadir K, Ailal F, Bouayad K, Nadifi S, Engelhardt KR, Grimbacher B.

Pediatrics. 2014 Nov;134(5):e1458-63. doi: 10.1542/peds.2013-1383.

8.

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B.

J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1.

9.

Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.

Sundin M, Tesi B, Sund Böhme M, Bryceson YT, Pütsep K, Chiang SC, Thunberg S, Winiarski J, Wikström AC.

J Clin Immunol. 2014 May;34(4):469-77. doi: 10.1007/s10875-014-0011-x. Epub 2014 Mar 14.

PMID:
24627079
10.

Reduced bone density in patients with autosomal dominant hyper-IgE syndrome.

Scheuerman O, Hoffer V, Cohen AH, Woellner C, Grimbacher B, Garty BZ.

J Clin Immunol. 2013 Jul;33(5):903-8. doi: 10.1007/s10875-013-9895-0. Epub 2013 Apr 19.

PMID:
23606327
11.

An update on the hyper-IgE syndromes.

Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B.

Arthritis Res Ther. 2012 Nov 30;14(6):228. doi: 10.1186/ar4069. Review.

12.

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES).

Spielberger BD, Woellner C, Dueckers G, Sawalle-Belohradsky J, Hagl B, Anslinger K, Bayer B, Siepermann K, Niehues T, Grimbacher B, Belohradsky BH, Renner ED.

J Allergy Clin Immunol. 2012 Dec;130(6):1426-8. doi: 10.1016/j.jaci.2012.07.030. Epub 2012 Sep 13. No abstract available.

PMID:
22981789
13.

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects.

Engelhardt KR, Grimbacher B.

J Allergy Clin Immunol. 2012 Feb;129(2):294-305; quiz 306-7. doi: 10.1016/j.jaci.2011.12.966. Review.

PMID:
22284928
14.

Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome.

Beitzke M, Enzinger C, Windpassinger C, Pfeifer D, Fazekas F, Woellner C, Grimbacher B, Kroisel PM.

J Neurol Sci. 2011 Oct 15;309(1-2):12-5. doi: 10.1016/j.jns.2011.07.045. Epub 2011 Aug 19.

PMID:
21855090
15.

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B.

J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059.

16.

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].

17.

Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome.

Garty BZ, Ben-Baruch A, Rolinsky A, Woellner C, Grimbacher B, Marcus N.

Eur J Pediatr. 2010 Jan;169(1):35-7. doi: 10.1007/s00431-009-0973-5. Epub 2009 Mar 24.

PMID:
19308447
18.

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.

Wjst M, Lichtner P, Meitinger T, Grimbacher B.

Eur J Hum Genet. 2009 Mar;17(3):352-6. doi: 10.1038/ejhg.2008.169. Epub 2008 Oct 8.

19.

Reduced memory B cells in patients with hyper IgE syndrome.

Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, Schlesier M, Rohr J, Jakob T, Oswald E, Kopp MV, Sanal O, Litzman J, Plebani A, Pietrogrande MC, Franco JL, Espanol T, Grimbacher B, Ehl S.

Clin Immunol. 2008 Dec;129(3):448-54. doi: 10.1016/j.clim.2008.08.002. Epub 2008 Oct 2.

PMID:
18835223
20.

[Hyper IgE syndrome. Opportune diagnosis and management].

Orozco CV, Velásquez LH, Méndez NH, Augusto B, Salazar T.

Rev Alerg Mex. 2008 Jan-Feb;55(1):38-45. Review. Spanish.

PMID:
18697452

Supplemental Content

Loading ...
Support Center