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

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 1, 2014, Pages

  Pai, Sung Yun ^a,b   De Boer, Helen ^a   Massaad, Michel J ^a   Chatila, Talal A ^a   Keles, Sevgi ^a   Jabara, Haifa H ^a   Janssen, Erin ^a   Lehmann, Leslie E ^a,b   Hanna Wakim, Rima ^c   Dbaibo, Ghassan ^c   McDonald, Douglas R ^a   Al Herz, Waleed ^d   Geha, Raif S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^d KUWAIT UNIVERSITY   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD; CHIMERA; CONTROLLED STUDY; DEDICATOR OF CYTOKINESIS 8 GENE; FLOW CYTOMETRY; GENE; GENE EXPRESSION; HEMATOPOIETIC CELL; HUMAN; LETTER; PRIORITY JOURNAL; B LYMPHOCYTE; CD8+ T LYMPHOCYTE; CHILD; CONSANGUINITY; DEFICIENCY; FEMALE; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; IMMUNOLOGY; JOB SYNDROME; MALE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD;

DOCK8 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; IMMUNOGLOBULIN E;

B-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOGLOBULIN E; JOB SYNDROME; MALE; PEDIGREE;

EID: 84903751001     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.02.023     Document Type: Article

References (9)

1. Q. Zhang, J. Davis, I. Lamborn, A. Freeman, H. Jing, and A. Favreau et al. Combined immunodeficiency associated with DOCK8 mutations N Engl J Med 361 2009 2046 2055
2. K.R. Engelhardt, S. McGhee, S. Winkler, A. Sassi, C. Woellner, and G. Lopez-Herrera et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome J Allergy Clin Immunol 124 2009 1289 1302.e4
3. T.C. Bittner, U. Pannicke, E.D. Renner, G. Notheis, F. Hoffmann, and B.H. Belohradsky et al. Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation Klin Padiatr 222 2010 351 355
4. S.A. Gatz, U. Benninghoff, C. Schütz, A. Schulz, M. Hönig, and U. Pannicke et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation Bone Marrow Transplant 46 2010 552 556
5. H. Al-Mousa, A. Hawwari, and Z. Alsum In DOCK8 deficiency donor cell engraftment post-genoidentical hematopoietic stem cell transplantation is possible without conditioning J Allergy Clin Immunol 131 2013 1244 1245
6. K.L. Randall, T. Lambe, A. Johnson, B. Treanor, E. Kucharska, and H. Domaschenz et al. Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production Nat Immunol 10 2009 1283 1291
7. K.L. Randall, S.S.-Y. Chan, C.S. Ma, I. Fung, Y. Mei, and M. Yabas et al. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice J Exp Med 208 2011 2305 2320
8. H.H. Jabara, D.R. McDonald, E. Janssen, M.J. Massaad, N. Ramesh, and A. Borzutzky et al. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation Nat Immunol 13 2012 612 620
9. M.C. Mizesko, P.P. Banerjee, L. Monaco-Shawver, E.M. Mace, W.E. Bernal, and J. Sawalle-Belohradsky et al. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency J Allergy Clin Immunol 131 2013 840 848