Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene
S. Wang
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
These authors contributed equally to this work.Search for more papers by this authorW. Mou
Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
These authors contributed equally to this work.Search for more papers by this authorZ. Xu
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Search for more papers by this authorJ. Gui
Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Search for more papers by this authorCorresponding Author
L. Ma
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Correspondence: L. Ma, M.D. E-mail: [email protected]Search for more papers by this authorS. Wang
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
These authors contributed equally to this work.Search for more papers by this authorW. Mou
Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
These authors contributed equally to this work.Search for more papers by this authorZ. Xu
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Search for more papers by this authorJ. Gui
Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Search for more papers by this authorCorresponding Author
L. Ma
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China
Correspondence: L. Ma, M.D. E-mail: [email protected]Search for more papers by this author
References
- 1Farmand S, Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Curr Opin Hematol 2015; 22: 12–22.
- 2Zhang Q, Jing H, Su HC. Recent advances in DOCK8 immunodeficiency syndrome. J Clin Immunol 2016; 36: 441–449.
- 3Qin T, An YF, Liu CH et al. Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. Immunol Res 2016; 64: 260–271.
- 4Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers 2010; 29: 131–139.
- 5Janssen E, Tsitsikov E, Al-Herz W et al. Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. Clin Immunol 2014; 150: 220.
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