The Hyper IgM Foundation Blog 

NEW YORK, New York—The Hyper IgM Foundation is delighted to announce it has awarded $15,000 to Dr. Antonio Condino-Neto at University of São Paulo, Brazil, to support research into Novel Immunopathological Mechanisms of X-Linked Hyper IgM Syndrome.

These funds will support the continued work in search of additional treatments for X-Linked Hyper IgM Syndrome (X-HIGM). Currently, the only known cure for X-HIGM is a stem cell transplant. There are no curative treatment options, however, for those X-HIGM patients without an HLA match or those with chronic infections or other conditions that make allogeneic stem cell transplant too risky. Lifelong treatment with immunoglobulin replacement therapy (IVIG) and prophylaxis antibiotics is necessary; however, even with these treatments, the survival rate for X-HIGM patents is low. Dr. Condino-Neto plans to use the grant to “investigate the mechanisms of response to infections focusing on mechanisms that precede the effector response in the infectious site.” In addition, Dr. Condino-Neto will investigate whether the in vitro interferon- gamma (IFN-γ) treatment, known to boost phagocyte activity, has the potential to improve these cells’ response. Dr. Condino-Neto’s work has the potential to advance the knowledge associated with the study of the effect of IFN-γ treatment can substantiate the development of new therapeutic strategies aimed at improving the quality of life of patients affected by this syndrome.

In the next year, the funding from the grant will help cover research into the immunological mechanisms involved in the high susceptibility to fungal infections showed by patients with X-HIGM, focusing on cellular functions that precede the action at the infectious site, and investigating whether neutrophils in vitro treatment with IFN-γ has the potential to improve the response of these cells.

Hyper IgM affects only 1 in 1,000,000 individuals. The life-threatening genetic mutation severely compromises the immune system and its ability to produce responses to pathogens such as bacteria and viruses. Chronic neutropenia, which is manifested cyclically or intermittently, affects approximately 70% of patients with X-HIGM, indicating severe disorders in the granulopoiesis process. The characterization of the immunological mechanisms affected by the lack of CD40-CD40L interactions and the effect of the IFN-γ treatment under these conditions bring up new perspectives for the development of therapeutic strategies that aim to improve the quality of life of the patients affected by this syndrome.

The Hyper IgM Foundation’s mission is to improve the treatment, quality of life and long-term outlook for children and adults living with Hyper IgM. The Foundation gives families coping with Hyper IgM the opportunity to connect with other patient families to gain both knowledge and support.

The Hyper IgM Foundation fundraises all year long in order to fund progress in research for a cure. Last year alone, the Foundation raised over $68,000. The goal is to see the understanding of and treatment for Hyper IgM Syndrome moved forward and that is where help is needed.

For more information about Hyper IgM Syndrome, or to support the cause, please visit www.hyperigm.org/donate.

If you have any questions or interest in supporting our foundation, please email [email protected].