Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency

Pai, Sung-Yun; Boer, Helen de; Massaad, Michel J.; Chatila, Talal A.; Keleş, Sevgi; Jabara, Haifa H.; Janssen, Erin; Lehmann, Leslie; Hanna-Wakim, Rima; Dbaibo, Ghassan; McDonald, Douglas R.; Al‐Herz, Waleed; Geha, Raif S.

doi:10.1016/j.jaci.2014.02.023

Cited by 52 publications

(51 citation statements)

References 9 publications

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“…http://dx.doi.org/10.1101/251819 doi: bioRxiv preprint first posted online Jan. 22, 2018; generated in human lymphocytes showed equal expression pattern of DOCK8 in T cells and B cells 20 .…”

Section: Dock8 Was Highly Expressed In All Lymphocyte Subsetsmentioning

confidence: 99%

Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity

Schauer¹,

Kleinwort²,

Degroote³

et al. 2018

Preprint

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The GTP-binding protein septin 7 is involved in various cellular processes, including cytoskeleton organization, migration and the regulation of cell shape. Septin 7 function in lymphocytes, however, is poorly characterized. Since the intracellular signaling role of septin 7 is dependent on its interaction network, interaction proteomics was applied to attain novel knowledge about septin 7 function in hematopoietic cells. Our previous finding of decreased septin 7 expression in peripheral blood-derived lymphocytes in ERU, a spontaneous animal model for autoimmune uveitis in man, extended the role of septin 7 to a potential key player in autoimmunity. Here, we revealed novel insights into septin 7 function by identification of DOCK8 as an interaction partner in primary blood derived lymphocytes. Since DOCK8 is associated with important immune functions, our finding of significantly decreased DOCK8 expression and altered DOCK8 interaction network in ERU might explain changes in immune response and shows the contribution of DOCK8 in pathomechanisms of spontaneous autoimmune diseases. Moreover, our analyses revealed insights in DOCK8 function, by identifying the signal transducer ILK as a novel DOCK8 interactor in lymphocytes. Our finding of the enhanced enrichment of ILK in ERU cases indicates a deviant influence of DOCK8 on inter-and intracellular signaling in autoimmune disease.not peer-reviewed)

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Section: Dock8 Was Highly Expressed In All Lymphocyte Subsetsmentioning

confidence: 99%

Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity

Schauer¹,

Kleinwort²,

Degroote³

et al. 2018

Preprint

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“…Since DOCK8 deficiency shares several clinical and immunological features with severe atopic dermatitis, it is helpful to have a rapid diagnostic test to differentiate the two (38). In fact, the flow cytometric assay for DOCK8 is able to identify all patients with a germ line genetic mutation in DOCK8, making it a reliable and quick diagnostic test, especially since genetic testing is complicated by the large size of the gene (39). It can also be used prognostically to assess proteinspecific chimerism postallogeneic hematopoietic cell transplantation (39).…”

Section: Use Of Flow Cytometry For Disease-specific Diagnosis Of Pidsmentioning

confidence: 99%

“…In fact, the flow cytometric assay for DOCK8 is able to identify all patients with a germ line genetic mutation in DOCK8, making it a reliable and quick diagnostic test, especially since genetic testing is complicated by the large size of the gene (39). It can also be used prognostically to assess proteinspecific chimerism postallogeneic hematopoietic cell transplantation (39). DOCK8 protein is expressed intracellularly in a variety of lymphoid and myeloid cell lineages (39) and can be analyzed constitutively (without activation) using a two-step flow cytometry method ( Fig.…”

Section: Use Of Flow Cytometry For Disease-specific Diagnosis Of Pidsmentioning

confidence: 99%

“…It can also be used prognostically to assess proteinspecific chimerism postallogeneic hematopoietic cell transplantation (39). DOCK8 protein is expressed intracellularly in a variety of lymphoid and myeloid cell lineages (39) and can be analyzed constitutively (without activation) using a two-step flow cytometry method ( Fig. 3) (35,39).…”

Section: Use Of Flow Cytometry For Disease-specific Diagnosis Of Pidsmentioning

confidence: 99%

“…DOCK8 protein is expressed intracellularly in a variety of lymphoid and myeloid cell lineages (39) and can be analyzed constitutively (without activation) using a two-step flow cytometry method ( Fig. 3) (35,39). For several of these disease-specific proteins, since there can be variable levels of expression, it is important to include the mean fluorescence intensity data as part of the analysis so that comparisons can be effectively made between the experimental healthy control subjects and patients.…”

Section: Use Of Flow Cytometry For Disease-specific Diagnosis Of Pidsmentioning

confidence: 99%

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Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies

Abraham

Aubert

2016

Clin Vaccine Immunol

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bGenetic defects of the immune system are referred to as primary immunodeficiencies (PIDs). These immunodeficiencies are clinically and immunologically heterogeneous and, therefore, pose a challenge not only for the clinician but also for the diagnostic immunologist. There are several methodological tools available for evaluation and monitoring of patients with PIDs, and of these tools, flow cytometry has gained prominence, both for phenotyping and functional assays. Flow cytometry allows real-time analysis of cellular composition, cell signaling, and other relevant immunological pathways, providing an accessible tool for rapid diagnostic and prognostic assessment. This minireview provides an overview of the use of flow cytometry in disease-specific diagnosis of PIDs, in addition to other broader applications, which include immune phenotyping and cellular functional measurements.

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