DOCK8 deficiency

被引：58

作者：

Su, Helen C. ^{[1
]}

Jing, Huie ^{[1
]}

Zhang, Qian ^{[1
]}

机构：

[1] NIAID, Host Def Lab, NIH, Bethesda, MD 20892 USA

来源：

YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II | 2011年 / 1246卷

关键词：

DOCK8; hyper-IgE syndrome; combined immunodeficiency; lymphopenia; HYPER-IGE SYNDROME; HYPERIMMUNOGLOBULIN-E SYNDROME; STEM-CELL TRANSPLANTATION; RAC ACTIVATOR DOCK2; CYTOKINESIS; 8; DOCK8; HOMOZYGOUS DELETIONS; STAT3; MUTATIONS; LUNG-CANCER; T-CELLS; IMMUNODEFICIENCY;

D O I：

10.1111/j.1749-6632.2011.06295.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 immunopathogenesis of this disease. In this review, we relate the clinical features of this disease to studies using patients' cells and a mouse model of Dock8 deficiency, which have revealed how DOCK8 regulates T and B cell numbers and functions. The results of these studies help to explain how the absence of DOCK8 contributes to patients' susceptibility to viral, fungal, and bacterial infections. However, unanswered questions remain regarding how the absence of DOCK8 also leads to high IgE and allergic disease, predisposition for malignancy, and unusual clinical features, such as CNS abnormalities and autoimmunity, observed in some patients.

引用

页码：26 / 33

页数：8

共 51 条

[1] Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome [J].

Al Khatib, Shadi ;

Keles, Sevgi ;

Garcia-Lioret, Maria ;

Koc-Aydiner, Elif Kara ;

Reisli, Ismail ;

Artac, Hasibe ;

Camcioglu, Yildiz ;

Cokugras, Haluk ;

Somer, Ayper ;

Kutukculer, Necil ;

Yilmaz, Mustafa ;

Ikinciogullari, Aydan ;

Yegin, Olcay ;

Yuksek, Mutlu ;

Genel, Ferah ;

Kucukosmanoglu, Ercan ;

Baki, Ali ;

Bahceciler, Nerin N. ;

Rambhatla, Anupama ;

Nickerson, Derek W. ;

McGhee, Sean ;

Barlan, Isil B. ;

Chatila, Talal .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (02) :342-348

[2]

Bachelerie F, 2010, DIS MARKERS, V29, P189, DOI [10.1155/2010/475104, 10.3233/DMA-2010-0736]

[3] Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency [J].

Barlogis, Vincent ;

Galambrun, Claire ;

Chambost, Herve ;

Lamoureux-Toth, Sylvie ;

Petit, Philippe ;

Stephan, Jean-Louis ;

Michel, Gerard ;

Fischer, Alain ;

Picard, Capucine .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2011, 128 (02) :420-422

[4] Successful Long-Term Correction of Autosomal Recessive Hyper-IgE Syndrome due to DOCK8 Deficiency by Hematopoietic Stem Cell Transplantation [J].

Bittner, T. C. ;

Pannicke, U. ;

Renner, E. D. ;

Notheis, G. ;

Hoffmann, F. ;

Belohradsky, B. H. ;

Wintergerst, U. ;

Hauser, M. ;

Klein, B. ;

Schwarz, K. ;

Schmid, I. ;

Albert, M. H. .

KLINISCHE PADIATRIE, 2010, 222 (06) :351-355

[5]

Blundell MP, 2010, DIS MARKERS, V29, P157, DOI [10.1155/2010/781523, 10.3233/DMA-2010-0735]

[6] Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity [J].

Côté, JF ;

Vuori, K .

JOURNAL OF CELL SCIENCE, 2002, 115 (24) :4901-4913

[7] Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening [J].

Dasouki, Majed ;

Okonkwo, Kingsley C. ;

Ray, Abhishek ;

Folmsbeel, Caspian K. ;

Gozales, Diana ;

Keles, Sevgi ;

Puck, Jennifer M. ;

Chatila, Talal .

CLINICAL IMMUNOLOGY, 2011, 141 (02) :128-132

[8] Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells [J].

de Beaucoudrey, Ludovic ;

Puel, Anne ;

Filipe-Santos, Orchidee ;

Cobat, Aurelie ;

Ghandil, Pegah ;

Chrabieh, Maya ;

Feinberg, Jacqueline ;

von Bernuth, Horst ;

Samarina, Arina ;

Janniere, Lucile ;

Fieschi, Claire ;

Stephan, Jean-Louis ;

Boileau, Catherine ;

Lyonnet, Stanislas ;

Jondeau, Guillaume ;

Cormier-Daire, Valerie ;

Le Merrer, Martine ;

Hoarau, Cyrille ;

Lebranchu, Yvon ;

Lortholary, Olivier ;

Chandesris, Marie-Olivia ;

Tron, Francois ;

Gambineri, Eleonora ;

Bianchi, Lucia ;

Rodriguez-Gallego, Carlos ;

Zitnik, Simona E. ;

Vasconcelos, Julia ;

Guedes, Margarida ;

Vitor, Artur Bonito ;

Marodi, Laszlo ;

Chapel, Helen ;

Reid, Brenda ;

Roifman, Chaim ;

Nadal, David ;

Reichenbach, Janine ;

Caragol, Isabel ;

Garty, Ben-Zion ;

Dogu, Figen ;

Camcioglu, Yildiz ;

Gulle, Sanyie ;

Sanal, Ozden ;

Fischer, Alain ;

Abel, Laurent ;

Stockinger, Birgitta ;

Picard, Capucine ;

Casanova, Jean-Laurent .

JOURNAL OF EXPERIMENTAL MEDICINE, 2008, 205 (07) :1543-1550

[9] Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome [J].

Engelhardt, Karin R. ;

McGhee, Sean ;

Winkler, Sabine ;

Sassi, Atfa ;

Woellner, Cristina ;

Lopez-Herrera, Gabriela ;

Chen, Andrew ;

Kim, Hong Sook ;

Lloret, Maria Garcia ;

Schulze, Ilka ;

Ehl, Stephan ;

Thiel, Jens ;

Pfeifer, Dietmar ;

Veelken, Hendrik ;

Niehues, Tim ;

Siepermann, Kathrin ;

Weinspach, Sebastian ;

Reisli, Ismail ;

Keles, Sevgi ;

Genel, Ferah ;

Kutuculer, Necil ;

Camcioglu, Yildiz ;

Somer, Ayper ;

Karakoc-Aydiner, Elif ;

Barlan, Isil ;

Gennery, Andrew ;

Metin, Ayse ;

Degerliyurt, Aydan ;

Pietrogrande, Maria C. ;

Yeganeh, Mehdi ;

Baz, Zeina ;

Al-Tamemi, Salem ;

Klein, Christoph ;

Puck, Jennifer M. ;

Holland, Steven M. ;

McCabe, Edward R. B. ;

Grimbacher, Bodo ;

Chatila, Talal A. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (06) :1289-1302

[10] Coronary Artery Abnormalities in Hyper-IgE Syndrome [J].

Freeman, Alexandra F. ;

Avila, Elizabeth Mannino ;

Shaw, Pamela A. ;

Davis, Joie ;

Hsu, Amy P. ;

Welch, Pamela ;

Matta, Jatin R. ;

Hadigan, Colleen ;

Pettigrew, Roderic I. ;

Holland, Steven M. ;

Gharib, Ahmed M. .

JOURNAL OF CLINICAL IMMUNOLOGY, 2011, 31 (03) :338-345

← 1 2 3 4 5 6 →