NIAID Clinical Genomics Program

The NIAID Clinical Genomics Program at the National Institutes of Health (NIH) is ​a broadly collaborative program that builds upon large-scale gene sequencing analysis to promote multi-disciplinary, cutting-edge basic and clinical genomics research. Our goal is to better understand, diagnose, and treat disorders of the immune system in collaboration with clinical agents.

News & Events

News

Feb 2017 Trip to UK for collaboration meetings with Genomics England, Wellcome Trust, and Sanger Center.

More funded exomes are available. Please email us if interested.

Events

Weekly Brown Bag Lunch Series

Weekly Genomics and Immunology Brown Bag Lunch Series

Weekly Genomics and Immunology Science Brown Bag Lunch Series, Tuesdays, 12 Noon, Building 10, Room 2C310

Currently Available Resources

Researchers involved with the Clinical Genomics Program study many diseases of the immune system that are rare and not well understood but often shed light on basic immune function and common immune disorders. This research is carried out across multiple labs, disease processes, and with many different tools.

The Clinical Genomics Program centralizes resources to be used for genomics and related research. Contact us to discuss use of any of the currently available resources:

  • MiSeq machine and reagents
  • Free sequencing
    • Whole exome sequencing (WES) with secondary findings analysis through NIH Clinical Center program
    • WES through Regeneron
    • Whole genome sequencing (WGS) through Merck
    • WES at reduced price through the National Intramural Sequencing Center
    • Funded targeted clinical testing available through outside commercial labs
    • Other providers as available; access may depend on suitability of cases, as determined by funders
  • Help with WES/WGS analysis
  • Genetic counseling, pedigree collection, educational material development
  • Select funding for training in genomics or immunology
  • Outreach help when screening for phenotypes/genotypes

Participating NIH Researchers

Collaborations

Two scientists review data on a computer screen

Collaboration is a key element of the Clinical Genomics Program mission to accelerate scientific discovery related to the understanding, diagnosis, and treatment of genetically based immune disorders. The program cultivates both public and private collaborations with institutions and investigators from around the world in an effort to foster scientific discovery. Listed below are some of the institutions, companies, and partnerships developed among Clinical Genomics Program researchers:

  • Merck
  • Regeneron
  • Novartis
  • Broad
  • Yale
  • University of Michigan
  • Qatar Women and Children's Hospital
  • Kansas City Children's Mercy Hospital
  • Cincinnati Children's Hospital
  • Boston's Children's Hospital
  • University of Pennsylvania
  • Tubitak (Turkey)
  • University Hospitals in Ankara, Hacettepe, Marmara, and Istanbul

Selected Publications

Abolhassani H et al. Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. J Exp Med. 2017 Jan;214(1):91-106.

Cohen J et al. Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers. Clin Infect Dis. 2016 Jul 1;63(1):41-7.

Elk aim E et al. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study. J Allergy Clin Immunol. 2016 Jul;138(1):210-218.e9.

Hox V et al. Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis. J Allergy Clin Immunol. 2016 Jul;138(1):187-99.

Toubiana J et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016 Jun 23;127(25):3154-64.

Schade A et al. Cool-temperature-mediated activation of phospholipase C-γ2 in the human hereditary disease PLAID. Cell Signal. 2016 May 17;28(9):1237-1251.

Lovell et al. Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies. J Allergy Clin Immunol. 2016 Apr 24. pii: S0091-6749(16)30151-8.

Drummond RA et al. Mechanistic Insights into the Role of C-Type Lectin Receptor/CARD9 Signaling in Human Antifungal Immunity. Front Cell Infect Microbiol. 2016 Apr 5;6:39.

Falcone EL et al. Colitis susceptibility in p47(phox-/-) mice is mediated by the micro biome. Microbiome. 2016 Apr 5;4:13.

Zhou Q et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016 Jan;48(1):67-73.

Lucas CL et al. Identifying genetic determinants of autoimmunity and immune dysregulation. Curr Opin Immunol. 2015 Oct 1;37:28-33. [Epub ahead of print]

Bønnelykke K et al. Genetics of allergy and allergic sensitization: common variants, rare mutations. Curr Opin Immunol. 2015 Oct;36:115-26. Epub 2015 Sep 18.

Vogel TP et al. The Ying and Yang of STAT3 in Human Disease. J Clin Immunol. 2015 Oct;35(7):615-23. Epub 2015 Aug 18.

Zhang Y et al. Genomics is rapidly advancing precision medicine for immunological disorders. Nat Immunol. 2015 Sep 18;16(10):1001-4.

Buchbinder D et al. Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation. J Allergy Clin Immunol. 2015 Sep;136(3):819-821.e1.

Lawrence MG et al.  GATA3 haploinsufficiency does not block allergic sensitization or atopic disease. J Allergy Clin Immunol. 2015 Aug 15. pii: S0091-6749(15)00942-2. [Epub ahead of print]

Williams KW et al. Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation. Immunol Allergy Clin North Am. 2015 Aug;35(3):523-44.

Tsang JS. Utilizing population variation, vaccination, and systems biology to study human immunology. Trends Immunol. 2015 Aug;36(8):479-93. Epub 2015 Jul 14.

Lo et al. Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.Science. 2015 Jul 24;349(6246):436-40.

Milner JD et al. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood. 2015 Jan 22;125(4):591-9.

Lenardo M, Lo B, Lucas CL. 2015. Genomics of immune diseases and new therapies. Nat Immunol. In press.

Lu W et al. Dual proteolytic pathways govern glycolysis and immune competence. Cell. 2014 Dec 18;159(7):1578-90.

Lucas CL et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med. 2014 Dec 15;211(13):2537-47.

Kuehn HS et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014 Sep 26;345(6204):1623-7.

Zhang Y et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5.

Lyons JJ et al. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J Allergy Clin Immunol. 2014 May;133(5):1471-4.

Lucas CL et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol. 2014 Jan;15(1):88-97.

Treatment Trials

Collaborations that uncovered the underlying genetic and cellular causes of specific immune disorders have, in some cases, resulted in novel treatments. Three such novel treatments are being actively investigated through a clinical treatment trial at NIH:

  1. Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation, 15-I-0159
  2. Study of Efficacy of CDZ173 in Patients With PASLI/APDS, NCT02435173
  3. Study of Magnesium Supplementation in Patients With XMEN Syndrome

Content last reviewed on January 18, 2017