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Hyper-IgE syndrome, 2021 update.
Minegishi Y. Minegishi Y. Allergol Int. 2021 Oct;70(4):407-414. doi: 10.1016/j.alit.2021.07.007. Epub 2021 Aug 18. Allergol Int. 2021. PMID: 34419355 Free article. Review.
Clinically and pathologically, the patients with hyper-IgE syndrome present similar skin manifestations to common atopic dermatitis. The original hyper-IgE syndrome is characterized by diminished inflammatory response, in combination with Staphylococcus aureu …
Clinically and pathologically, the patients with hyper-IgE syndrome present similar skin manifestations to common atopic dermatitis. …
DOCK8 deficiency.
Su HC, Jing H, Zhang Q. Su HC, et al. Ann N Y Acad Sci. 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. Ann N Y Acad Sci. 2011. PMID: 22236427 Review.
The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenes …
The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE sy
Inherited human ZNF341 deficiency.
Béziat V, Fieschi C, Momenilandi M, Migaud M, Belaid B, Djidjik R, Puel A. Béziat V, et al. Curr Opin Immunol. 2023 Jun;82:102326. doi: 10.1016/j.coi.2023.102326. Epub 2023 Apr 18. Curr Opin Immunol. 2023. PMID: 37080116 Free PMC article. Review.
Including the two new cases described in this review, only 20 patients with autosomal-recessive (AR) ZNF341 deficiency have ever been reported. Patients with AR ZNF341 deficiency have clinical and immunological phenotypes resembling those of patients with autosomal- …
Including the two new cases described in this review, only 20 patients with autosomal-recessive (AR) ZNF341 deficiency have ever been …
DOCK8 deficiency: Insights into pathophysiology, clinical features and management.
Biggs CM, Keles S, Chatila TA. Biggs CM, et al. Clin Immunol. 2017 Aug;181:75-82. doi: 10.1016/j.clim.2017.06.003. Epub 2017 Jun 15. Clin Immunol. 2017. PMID: 28625885 Free PMC article. Review.
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. ...T …
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical …
Recent Advances in DOCK8 Immunodeficiency Syndrome.
Zhang Q, Jing H, Su HC. Zhang Q, et al. J Clin Immunol. 2016 Jul;36(5):441-9. doi: 10.1007/s10875-016-0296-z. Epub 2016 May 20. J Clin Immunol. 2016. PMID: 27207373 Free PMC article. Review.
Since the discovery of the genetic basis of DOCK8 immunodeficiency syndrome (DIDS) in 2009, several hundred patients worldwide have been reported, validating and extending the initial clinical descriptions. ...Additionally, several groups have further elucida …
Since the discovery of the genetic basis of DOCK8 immunodeficiency syndrome (DIDS) in 2009, several hundred patients wo …
Primary Immunodeficiencies with Elevated IgE.
Mogensen TH. Mogensen TH. Int Rev Immunol. 2016;35(1):39-56. doi: 10.3109/08830185.2015.1027820. Epub 2015 May 13. Int Rev Immunol. 2016. PMID: 25970001 Review.
In recent years a number of primary immunodeficiencies (PIDs) characterized by elevated Immunoglobulin E (IgE) levels have been uncovered and termed as Hyper-IgE syndrome (HIES). ...In this review, are presented the current knowledge on the clinical presentation, in …
In recent years a number of primary immunodeficiencies (PIDs) characterized by elevated Immunoglobulin E (IgE) levels have been uncov …
DOCK8 regulates signal transduction events to control immunity.
Kearney CJ, Randall KL, Oliaro J. Kearney CJ, et al. Cell Mol Immunol. 2017 May;14(5):406-411. doi: 10.1038/cmi.2017.9. Epub 2017 Apr 3. Cell Mol Immunol. 2017. PMID: 28366940 Free PMC article. Review.
Genetic mutations in the gene encoding DOCK8 cause an autosomal recessive form of hyper immunoglobulin E syndrome (AR-HIES), referred to as DOCK8 deficiency. DOCK8 deficiency in humans results in the onset of combined immunodefi
Genetic mutations in the gene encoding DOCK8 cause an autosomal recessive form of hyper immunoglobulin E syndrome (AR-HIES), r …
Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.
Dimitrova D, Freeman AF. Dimitrova D, et al. Dermatol Clin. 2017 Jan;35(1):11-19. doi: 10.1016/j.det.2016.07.002. Dermatol Clin. 2017. PMID: 27890234 Free PMC article. Review.
DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy, recurrent sinopulmonary and cutaneous viral infections, and malignancy. The DOCK8 protein is critical for cytoskeletal organization
DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy
Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?
Ponsford MJ, Klocperk A, Pulvirenti F, Dalm VASH, Milota T, Cinetto F, Chovancova Z, Rial MJ, Sediva A, Litzman J, Agostini C, van Hagen M, Quinti I, Jolles S. Ponsford MJ, et al. Allergy. 2018 Nov;73(11):2122-2136. doi: 10.1111/all.13578. Epub 2018 Oct 2. Allergy. 2018. PMID: 30043993 Review.
The 2017 International Union of Immunological Societies (IUIS) classification recognizes 3 hyper-IgE syndromes (HIES), including the prototypic Job's syndrome (autosomal dominant STAT3-loss of function) and autosomal recessive PGM3 and SPINK5 syndromes
The 2017 International Union of Immunological Societies (IUIS) classification recognizes 3 hyper-IgE syndromes (HIES), including the …
Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.
Su HC, Jing H, Angelus P, Freeman AF. Su HC, et al. Immunol Rev. 2019 Jan;287(1):9-19. doi: 10.1111/imr.12723. Immunol Rev. 2019. PMID: 30565250 Free PMC article. Review.
DOCK8 immunodeficiency syndrome (DIDS) is a progressive combined immunodeficiency that can be distinguished from other combined immunodeficiencies or hyperimmunoglobulinemia E syndromes in featuring (a) profound susceptibili
DOCK8 immunodeficiency syndrome (DIDS) is a progressive combined immunodeficiency that can be distinguish
33 results