The Essential Role of DOCK8 in Humoral Immunity
http://www.hindawi.com/journals/dm/2010/143612/abs/
Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
http://www.hindawi.com/journals/dm/2010/607891/abs/
Clinical Manifestations of Hyper IgE Syndromes
http://www.hindawi.com/journals/dm/2010/580197/abs/
Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome
http://www.hindawi.com/journals/dm/2010/972591/abs/
DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction
http://www.hindawi.com/journals/dm/2010/397291/abs/
Immune Deficiency Foundation
http://primaryimmune.org/
http://www.nejm.org/doi/full/10.1056/NEJMoa0905506#t=articleTop
If this doesn't bring up the complete article for you, then just go to nejm.org, search for dock8. You may need to join nejm which is easy.
Curative treatment of autosomal-recessivehyper-IgE syndrome by hematopoietic cell transplantation
AUTHOR(S)
Gatz, S. A.; Benninghoff, U.; Sch�tz, C.; Schulz, A.; H�nig, M.; Pannicke, U.; Holzmann, K-H.; Schwarz, K.; Friedrich, W.
PUB. DATE
April 2011
SOURCE
Bone Marrow Transplantation;Apr2011, Vol. 46 Issue 4, p552
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Autosomal-recessive hyper-IgE syndrome (AR-HIES) is a combined immunodeficiency recently found to be associated with mutations of DOCK8. Clinically, this disorder is characterized beside recurrent bacterial complications, in particular by an unusual susceptibility to extensive cutaneous viral complications and by a high risk for squamous cell carcinoma. Here, we report on lasting control over the disorder in two patients by hematopoietic cell transplantation (HCT). Both patients were suffering from extensive long-lasting cutaneous viral complications, in particular from disfiguring molluscum contagiosum infections, when treated at the age of 10 and 17 years. Donors were matched unrelated, and conditioning was carried out with a combination of fludarabine, melphalan and BM-targeted radioimmunotherapy. Both patients developed stable, full donor cell chimerism, with the exception of persistent low-IgA serum levels and the exception of normal immune functions. Over the course of several months, cutaneous manifestations of viral disease resolved completely and both patients remain clinically well and free of infectious complications at 4 and 2 years, respectively, after transplantation. This represents the first report indicating HCT to be curative in patients with AR-HIES, which should be considered early before life-threatening complications develop, which include malignancies.
J Clin Immunol. 2012 Aug;32(4):698-708. Epub 2012 Apr 4.
Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency.
Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, Tezcan I, Turkkani G, Matthews HF, Haliloglu G, Yuce A, Yalcin B, Gokoz O, Oguz KK, Su HC.
Source
Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey, sanaloz@tr.net.
Abstract
We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and recurrent respiratory or gastrointestinal tract infections. However, four patients presented with other features. Patient 1-1 featured sclerosing cholangitis and colitis; patient 2-1, granulomatous soft tissue lesion and central nervous system involvement, with primary central nervous system lymphoma found on follow-up; patient 3-1, a fatal metastatic leiomyosarcoma; and patient 4-2 showed no other symptoms initially besides atopic dermatitis. Similar to other previously reported Turkish patients, but in contrast to patients of non-Turkish ethnicity, the patients' lymphopenia was primarily restricted to CD4(+) T cells. Patients had homozygous mutations in DOCK8 that altered splicing, introduced premature terminations, destabilized protein, or involved large deletions within the gene. Genotyping of remaining family members showed that DOCK8 deficiency is a fully penetrant, autosomal recessive disease. In our patients, bone marrow transplantation resulted in rapid improvement followed by disappearance of viral skin lesions, including lesions resembling epidermodysplasia verruciformis, atopic dermatitis, and recurrent infections. Particularly for patients who feature unusual clinical manifestations, immunological testing, in conjunction with genetic testing, can prove invaluable in diagnosing DOCK8 deficiency and providing potentially curative treatment.
JCSMR school seminar series: DOCK8 immune deficiency syndrome - lessons learnt from the mouse
JCSMR school seminar series: DOCK8 immune deficiency syndrome - lessons learnt from the mouse
Presentation of the Fenner Medal and the Dewar Milne Prize in Immunology.
Dr Katrina Randall, Clinical Immunologist, The Canberra Hospital and Visiting Fellow, Department of Immunology, JCSMR.
The Frank Fenner Medal is awarded annually for the most outstanding PhD thesis submitted in The John Curtin School of Medical Research at The Australian National University. The medal will be presented by Marilyn Fenner.
The Dewar Milne Prize in Immunology is awarded annually to the student judged to have carried out the most significant piece of research in the field of immnology during their doctoral candidature at The John Curtin School of Medical Research. The award will be presented by Mr John Milne.
12:00pm - 1:00pm, 17 Feb 2012
The Finkel Lecture Theatre, The John Curtin School of Medical Research, Building 131, Garran Road, ANU
Contact:
Laura Vitler
E: laura.vitler@anu.edu.au
T: +61 2 6125 2589
DOCK8 Gene Sequencing
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