Immunodeficiency with hyper IgM type 1

What causes hyper IgM syndrome?

A flawed gene (or genes) in T-cells (a type of white blood cell that is part of the immune system and helps the body fight diseases or harmful substances) is responsible for hyper IgM syndrome. The faulty T-cells do not give B-cells a signal they need to switch from making IgM to IgA and IgG. Most cases (approximately 70%) of hyper-IgM syndrome are linked to a recessive mutation on the X chromosome. These cases are inherited as an X-linked recessive genetic trait. Because males do not have a second, healthy, X-chromosome to offset the disease, boys far out number girls with this disease.

A small number of cases of hyper IgM syndrome have been attributed to autosomal recessive and autosomal dominant genetic inheritance. In addition, a rare acquired form of the disorder has been described in the medical literature.

Last updated on 05-01-20

Can female carriers of immunodeficiency with hyper IgM type 1 have immunodeficiency symptoms?

While female carriers of immunodeficiency with hyper IgM type 1 typically do not report symptoms, we have identified several studies that explore the possibility of female carriers exhibiting symptoms.

We additionally identified one case report described in the medical literature that you might find helpful. Case reports document clinical findings associated with individual cases. It is important to keep in mind that the clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another. This particular case report describes a female carrier of immunodeficiency with hyper IgM type 1 with symptoms of an immunodeficiency including: recurrent infections of the lower and upper respiratory tract and low IgG and IgA serum (blood) levels.

Last updated on 05-01-20

What is the immune system?

The immune system is the body's first line of defense against germs. The immune system uses specialized cells and organs to help the body recognize and respond to foreign invaders. It even has its own circulatory system, called the lymphatic system.

Last updated on 05-01-20

What is hyper IgM syndrome?

Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a person’s immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency can’t get rid of germs or protect themselves from new germs as well as they should. Primary immunodeficiencies are inherited, meaning they are passed down from parents to children.

Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are proteins found in the blood. Hyper IgM results in a susceptibility to bacterial infections and sometimes opportunistic infections. There are five different types of hyper IgM syndromes (types 1-5). The types are distinguished by the location of the gene mutation involved.

Last updated on 05-01-20

Where can I learn more about hyper IgM syndrome?

The National Institute of Child Health and Human Development (NICHD) Clearinghouse. The NICHD provides information on primary immunodeficiency syndromes, including hyper IgM syndrome, and on other topics related to the health of children, adults, and families.

The National Institute of Child Health and Human Development Clearinghouse (NICHD)
PO Box 3006
Rockville, MD 20847
Toll free: 800-370-2943
Fax: 301-984-1473
Web site:

In addition, many support organizatons for this condition offer patient friendly information. To view a list of these support organizations, go to the "Organizations" tab of this webpage.

Last updated on 05-01-20

How might hyper IgM syndrome be treated?

The cornerstone of treatment for individuals with hyper IgM syndrome is regular injections of intravenous immunogloblulin (IVIG). This treatment not only supplies missing IgG antibodies, but also prompts a drop in IgM antibodies. Patients with neutropenia can take granulocyte colony- stimulating factor (G-CSF). Antibiotics may also be prescribed to prevent the respiratory infection, pneumocystis carinii pneumonia.

Most children with hyper-IgM syndrome respond well to treatment, become symptom-free and resume normal growth.

Last updated on 05-01-20

Name: Jeffrey Modell Foundation JMF 780 Third Ave
New York, NY, 10017, United States
Fax : 212-764-4180 Email: Url: JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures - through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
Name: International Patient Organization for Primary Immunodeficiencies IPOPI Rock Bottom, Trerieve Downderry
PL11 3LY
United Kingdom
Phone: 44-01503-250-668/961 Email: Url:
Name: Immune Deficiency Foundation 110 West Road, Suite 300
Towson, MD, 21204, United States
Toll Free: 1-800-296-4433 Fax : +1-410-321-9165 Email: Url:
Name: Immune Deficiencies Foundation Australia PO Box 969 Penrith NSW 2751
Phone: 800-100-198 Email: Url:
Name: Primary Immune Deficiency UK PID UK PO Box 6970
Basingstoke, RG24 4XL, United Kingdom
Toll Free: 0800 987 8986 Email: Url:
Diane Hollenbaugh, Lynne H. Wi, Hans D. Ochs, Shigeaki Nonoyama, Laura S. Grosmaire, Jeffrey A. Ledbetter, Randolf J. Noelle, Harry Hill, Alejandro Aruffo. The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1 Journal of Clinical Investigation. August 1994; 94(2). 612-622. Reference Link Thomas J. Kipps. X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome Journal of Clinical Investigation. August 1994; 94(2). 469. Reference Link Genevieve de Saint Basile, Marie-Dominique Tabone, Anne Durandy, Florence Phan, Alain Fischer, Francoise Le Deist. CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization European Journal of Immunology. January 1999; 29(1). 367-377. Reference Link

Note, these links are external searches against the National Laboratory of Medicine's drug database. You may need to adjust the search if there are no results found.

Drug Name Generic Name
Biktarvy bictegravir/emtricitabine/tenofovir disoproxil fumarate

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