Only several hundred living people have X-linked hyper IgM syndrome (HIGM).
It is so rare, that when you search online for the disease, the limited amount of results are typically from scholarly scientific research, almost impossible for a layperson to decipher. I had to have my husband's friend from Merck explain to me what the disease is.
But, here’s one website that does an excellent job of explaining the disease to a layperson: http://www.answers.com/topic/hyper-igm-syndrome
In a nutshell, X-linked hyper IgM is a genetic disease that is typically inherited from the mother, though it can sometimes also manifest as a result of a genetic mutation. People with this disease can not manufacture certain antibodies that are key to the body defending itself against infectious diseases. Because males have only one X chromosome, if they inherit the abnormal gene, they become infected with the disease. Females would only be carriers.
The most common symptoms include ear, throat and chest infections which may be severe and/or very frequent. Diarrhea, bone infection/ arthritis, mouth ulcers, anemia, liver problems are also other known symptoms. About 70% of patients contract liver disease by age 30. Malignant tumors, most commonly non-Hodgkin's lymphoma or cancers of the gall bladder and liver can afflict someone with HIGM. Prognosis is poor with only 20% surviving to the age of 25.
For those looking to learn more, below is a list of articles and research about the disease and bone marrow transplants.
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features, 2005
Vassilios Lougaris, Raffaele Badolato, Simona Ferrari, Alessandro Plebani, Department of Pediatrics and Istituto di Medicina Molecolare ‘‘A. Nocivelli’’,University of Brescia, Brescia, Italy. Medical Genetics of S. Orsola-Malpighi Hospital, Bologna, Italy.
Hematopoietic cell transplantation for correction of primary immunodeficiencies, 2008
AH Filipovich, Immunodeficiency and Histiocytosis Program, Division of Hematology/Oncology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA (email:lisa.filipovich@cchmc.org)
Treatment of immunodeficiency: Long-term outcome and quality of life, 2008
William T. Shearer, MD, PhD, Luigi D. Notarangelo, MD, and Linda M. Griffith, MD, PhD Houston, Tex, Boston, Mass, and Bethesda, Md
Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team, 2006
Y Tsuji, K Imai, M Kajiwara, Y Aoki, T Isoda, D Tomizawa, M Imai, S Ito, H Maeda, Y Minegishi, H Ohkawa, J Yata, N Sasaki, K Kogawa, M Nagasawa, T Morio, S Nonoyama and S Mizutani,Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan; Department of Pediatrics, National Defense Medical College, Saitama, Japan; Department of Blood Transfusion, University Hospital Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan and Department of Pediatrics, Saitama Medical School, Saitama, Japan
Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen, 2004
Kanchan Rao, Persis J. Amrolia, Alison Jones, Catherine M. Cale, Paru Naik, Doug King, Graham E. Davies, H. Bobby Gaspar, and Paul A. Veys
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005
Luigi Notarangelo, MD,Jean-Laurent Casanova, MD, Mary Ellen Conley, MD, Helen Chapel, MD, Alain Fischer, MD, Jennifer Puck, MD, Chaim Roifman, MD, Reinhard Seger, MD, and Raif S. Geha, MD, for the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Brescia, Italy, Paris, France, Memphis, Tenn, Oxford, United Kingdom, Bethesda, Md, Toronto, Ontario, Canada, Zurich, Switzerland, and Boston, Mass
Hematopoietic stem cell transplantation for primary immunodeficiency disease, 2007
CC Dvorak and MJ Cowan, Department of Pediatrics, Blood and Marrow Transplant Division, UCSF Children's Hospital, San Francisco, CA, USA (email: mcowan@peds.ucsf.edu)
Reduced intensity conditioning and allogeneic stem cell transplantation in childhood malignant and nonmalignant diseases, 2007
P Satwani, N Cooper, K Rao, P Veys and P Amrolia, Department of Pediatrics, Columbia University, New York, NY, USA; Institute for Child Health, University College, London, UK and Department of Bone Marrow Transplantation, Great Ormond Street Children’s Hospital, London, UK
Reduced-Intensity Allogeneic Stem Cell Transplantation in Adults and Children with Malignant and Nonmalignant Diseases: End of the Beginning and Future Challenges, 2005
Prakash Satwani, Lauren Harrison, Erin Morris, Gustavo Del Toro, Mitchell S. Cairo, Departments of Pediatrics, Medicine, and Pathology, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York
Defining the Niche for Reduced-Intensity Conditioning in Adult and Pediatric Stem Cell Transplantation, 2009
Jan S. Moreb, MD, John R. Wingard, MD
If you want to research this more on your own, there are several great websites to do additional searches:
www.pubmed.gov (it's by US National Library of Medicine - National Institutes of Health)
scholar.google.com
www.deepdyve.com (the above 2 links will provide abstracts, but if you actually want to purchase the articles, deepdyve is a new company that allows individual consumers to purchase many medical journal articles for ~$0.99/ article. It's in beta, but provided some really useful links when I did my searches).
Lastly, Random Thoughts and Chance Encounters - Below is a collection of websites, people, notes and email excerpts which I found incredibly useful. A caveat - I am not a doctor or scientist, just a concerned family member. I'm trying to represent information as accurately as possible, but have aggregated this data across a wide range of sources. The best thing to do is to verify the accuracy of any information below with your own doctors:
A Great Website: http://www.davidmcnally.blogspot.com - One mother's blog about living with and treating WAS (Wiskott-Aldrich Syndrome, another primary immuno-deficiency). Illuminating, informative and an intimate look into life with WAS and undergoing BMT/ GVHD. A must read.
Experimental and Investigational Treatments for HIGM (from the Children’s Health Encyclopedia, 2006)
Researchers have found that giving artificial CD40 ligand to specially bred immunodeficient mice improves their ability to make IgA and IgG antibodies. The National Institutes of Health (NIH) is in the early 2000s conducting studies to evaluate the effectiveness of this treatment in humans.
As of the early 2000s, researchers at the National Institutes of Health and the University of Pennsylvania are investigating the possibility of treating hyper-IgM syndrome with gene therapy. Gene therapy involves the insertion of a normal gene into a targeted cell to replace an abnormal gene by means of a vector or carrier molecule. The most common vectors are genetically altered viruses. Reports on this research published in 2004, however, indicate that gene therapy for hyper-IgM syndrome will be more complicated and take longer to develop than was originally expected.
ABOUT BONE MARROW TRANSPLANTS
Dental Health important for BMT
Luigi Notarangelo - he appears to be an important scientist in HIGM research. Children's Hospital in Boston. The head of the Disorders of Immunity Section, Genetics and Molecular Biology Branch National Human Genome Research Institute at the NIH, told me that he was "a world renown expert in HIGM1".
AH Filipovich, Cincinnati Children's Hospital Medical Center - She's written several articles about HIGM and I've also seen other blogs refer to her.
Dr. Lauren Pachman - I don't know anything about this doctor. I just came across her bio on the hospital's website, and was interested only because she works at the hospital my brother is considering for Connor. Connor's parents are working with other doctors at Chicago's Children's Hospital, referenced at the top of this page.
A lot of research seems to be coming from Brescia Italy (University of Brescia, Department of Pediatrics and Istituto di Medicina Molecolare). My sister in law also said that some cutting edge research was being conducted in London, though I'm not sure which hospital/ research center.
Last Updated: 2010-01-21