MNT: Discovery Of New Genetic Mechanism Of Immune Deficiency

Researchers at National Jewish Health have discovered a novel genetic mechanism of immune deficiency. Magdalena M. Gorska, MD, PhD, and Rafeul Alam, MD, PhD, identified a mutation in Unc119 that causes immunodeficiency known as idiopathic CD4 lymphopenia. Unc119 is a signaling protein that activates and induces T cell proliferation. The mutation impairs Unc119 ability to activate T cells. Dr. Gorska, presented her findings at Translational Science 2012, an NIH-funded conference in Washington D.C.

"A better understanding of the molecular mechanisms associated with this mutation will improve diagnosis and pave the way for development of new therapies," said Dr. Gorska.

Drs. Gorska and Alam previously published their findings in the journal Blood, and Dr. Gorska delivered a Presidential Plenary on the topic at the annual meeting of the American Academy of Allergy Asthma & Immunology.

Nearly a decade ago Drs. Alam and Gorska identified Unc119 as a novel activator of SRC-type tyrosine kinases, important regulators of cellular function. Since then, they have published numerous papers where they characterized the function of this protein in various aspects of the immune system.

Idiopathic CD4 lymphopenia is a rare and heterogeneous syndrome defined by low levels of CD4 T cells in the absence of HIV infection, which predisposes patients to infections and malignancies. Recent research by others had linked the syndrome to reduced activation of the SRC-type kinase known as Lck. The latter kinase is involved in T cell development, activation and proliferation...

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