DOCK8 deficiency is a combined immunodeficiency disease that is characterized by severe problems with recurrent, persistent, and progressive infections, especially of the skin. This is a major contributing factor to the high morbidity and mortality seen in this disease. However, another key feature of DOCK8 deficiency is the allergic disease: patients typically have severe eczematous dermatitis, asthma, and life-threatening food allergies, often accompanied by high levels of serum IgE and eosinophilia. Rarer complications include vasculopathy, cancer, and autoimmunity. In FY2018, we contributed to a reports which are currently under review investigating the viromes of DOCK8-deficientt patients and accumulated posttransplant outcomes. We have continued our investigations examining genotype-phenotype relationships of this disease, as well as collaborations investigating mechanisms of allergic manifestations of disease and outcomes after transplantation.

Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2018
Total Cost
Indirect Cost
Name
Niaid Extramural Activities
Department
Type
DUNS #
City
State
Country
Zip Code
Tangye, Stuart G; Pillay, Bethany; Randall, Katrina L et al. (2017) Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells. J Allergy Clin Immunol 139:933-949
Dimitriades, Victoria R; Devlin, Vincent; Pittaluga, Stefania et al. (2017) DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation. Front Pediatr 5:38
Shah, Nirali N; Freeman, Alexandra F; Su, Helen et al. (2017) Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide. Biol Blood Marrow Transplant 23:980-990
Freeman, Alexandra F; Shah, Nirali N; Parta, Mark et al. (2016) Haploidentical related donor hematopoietic stem cell transplantation with post-transplantation cyclophosphamide for DOCK8 deficiency. J Allergy Clin Immunol Pract 4:1239-1242.e1
Zhang, Qian; Jing, Huie; Su, Helen C (2016) Recent Advances in DOCK8 Immunodeficiency Syndrome. J Clin Immunol 36:441-9
Happel, Corinne S; Stone, Kelly D; Freeman, Alexandra F et al. (2016) Food allergies can persist after myeloablative hematopoietic stem cell transplantation in dedicator of cytokinesis 8-deficient patients. J Allergy Clin Immunol 137:1895-1898.e5
Cuellar-Rodriguez, Jennifer; Freeman, Alexandra F; Grossman, Jennifer et al. (2015) Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency. Biol Blood Marrow Transplant 21:1037-45
Aydin, Susanne E; Kilic, Sara Sebnem; Aytekin, Caner et al. (2015) DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol 35:189-98
Betts, K; Abusleme, L; Freeman, A F et al. (2015) A 17-year old patient with DOCK8 deficiency, severe oral HSV-1 and aggressive periodontitis - a case of virally induced periodontitis? J Clin Virol 63:46-50
Zhang, Qian; Dove, Christopher G; Hor, Jyh Liang et al. (2014) DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med 211:2549-66

Showing the most recent 10 out of 14 publications