Helen Su, M.D., Ph.D.Building 10CRC, Room 5W-394010 Center DriveBethesda, MD 20892–1456Phone: 301-451-8783Fax: firstname.lastname@example.org
Chief, Human Immunological Diseases Unit, LHD
The goals of the Human Immunological Diseases Unit (HIDU) are to understand the molecular mechanisms regulating the human immune system and how their derangements cause disease, with the objective of improving diagnosis and treatment. We study patients with a spectrum of poorly characterized, inherited immunodeficiencies and autoimmune diseases, who lack molecular diagnoses. These patients display combinations of 1) lymphocyte accumulation leading to enlarged spleens, lymph nodes, or lymphocyte infiltration into other organs such as the lungs; 2) immunodeficiencies that reflect defective lymphocyte function, with increased susceptibility to viral, fungal, or bacterial infections; and 3) autoimmunity, including hemolytic anemia and idiopathic thrombocytopenic purpura.
Besides patients with these features who cannot be easily classified, we are also studying patients who carry clinical diagnoses of DOCK8 deficiency (autosomal recessive hyper-IgE syndrome), caspase-8 deficiency state (CEDS) or autoimmune lymphoproliferative syndrome (ALPS) variants, X-linked immunodeficiency with Magnesium defect and Epstein-Barr Virus infection and Neoplasia (XMEN) disease, combined immunodeficiency (CID), common variable immunodeficiency (CVID), Evans syndrome, and familial hemophagocytic lymphohistiocytosis (FHLH). We have established close collaborations with several groups at the National Institutes of Health (NIH) to study these rare diseases, including the Laboratory of Immunology and the Laboratory of Clinical Infectious Diseases within NIAID and others outside NIH.
By combining clinical evaluations, assessments of lymphocyte function, biochemical and genetic analyses, and new technologies, we aim to define new clinical entities and discover novel or unappreciated roles of genes that regulate the human immune system. An example of this approach is illustrated by DOCK8 deficiency disease, in which comparative hybridization arrays revealed autosomal recessive mutations in the DOCK8 gene. This combined immunodeficiency disease features increased susceptibility to various infections, but especially viral skin infections, including herpes simplex virus, human papillomavirus, and molluscum contagiosum virus, severe allergic disease, and increased risk of developing skin cancers or lymphomas. Ongoing work in the laboratory is focused on understanding how DOCK8 deficiency impairs T cell functions to cause this disorder. By applying similar experimental approaches to other unique patients, we hope to gain insights into the molecular regulation of the human immune system in both normal and diseased states.
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Helen Su received M.D. and Ph.D. degrees from Brown University. She completed training in pediatrics at St. Louis Children’s Hospital, Washington University, and subspecialty training in allergy and immunology at NIAID. After postdoctoral training with Michael Lenardo, M.D., in the Laboratory of Immunology, she joined the Laboratory of Host Defenses in 2007 as a tenure-track clinical investigator.
Huie JingQian ZhangYu Zhang Devon Chandler-BrownEmily KimIam LambornThomas Dimaggio
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. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. J Clin Immunol. 2012 Aug; 32(4):698-708.
Su HC, Jing H, Zhang Q. DOCK8 deficiency. Ann N Y Acad Sci. 2011 Dec;1246:26-33.
Li FY, Chaigne-Delalande B, Kanellopoulou C, Davis JC, Matthews HF, Douek DC, Cohen JI, Uzel G, Su HC, Lenardo MJ. Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature. 2011 Jul 27;475(7357):471-6.
Zhang Q, Su HC. Hyperimmunoglobulin E syndromes in pediatrics. Curr Opin Pediatr. 2011 Dec;23(6):653-8.
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009 Nov 19;361(21):2046-55.
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Information for Patients and Referring PhysiciansA patient may be considered for our research studies through referral by his or her personal physician. To determine eligibility, we generally request a referral letter that contains a concise summary of the patient’s medical history and relevant laboratory tests. The NIH Clinical Center's Patient Recruitment Office can provide general information about clinical research protocols across all NIH institutes.
The HIDU participates in the following clinical protocols, which are actively recruiting patients:
Last Updated May 30, 2013
Last Reviewed July 05, 2012