Omenn syndrome

Title

Other Names:

Reticuloendotheliosis familial with eosinophilia; Severe combined immunodeficiency with hypereosinophilia

Categories:

Congenital and Genetic Diseases; Immune System Diseases

Summary Summary

Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels.^[1]^[2]^[3] Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this syndrome, the SCID is associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired.^[1] Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes.^[1]^[3] Additional causative genes have been identified.^[1] Early recognition of this condition is important for genetic counseling and early treatment. If left untreated, Omenn syndrome is fatal. The prognosis may be improved with early diagnosis and treatment with compatible bone marrow or cord blood stem cell transplantation.^[1]^[2]

Last updated: 3/21/2012

Symptoms Symptoms

Infants with Omenn syndrome typically present shortly after birth, usually by 3 months of age. This is similar to other types of severe combined immunodeficiency (SCID). The characteristic skin findings (red and peeling skin), chronic diarrhea, and failure to thrive often precede the onset of infections. Life-threatening infections caused by common viral, bacterial, and fungal pathogens occur next. Lymphadenopathy and hepatosplenomegaly, both symptoms unique to Omenn syndrome, develop next.^[1]

Last updated: 3/21/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal lymphocyte morphology		0004332
Alopecia	Hair loss	0001596
Chronic diarrhea		0002028
Erythroderma		0001019
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Hepatomegaly	Enlarged liver	0002240
Lymphadenopathy	Swollen lymph nodes	0002716
Severe combined immunodeficiency		0004430
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the eyebrow	Absence of eyebrow Lack of eyebrow Missing eyebrow [ more ]	0100840
Desquamation of skin soon after birth		0007549
Dry skin		0000958
Edema	Fluid retention Water retention [ more ]	0000969
Eosinophilia	High blood eosinophil count	0001880
Fever		0001945
Pneumonia		0002090
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Splenomegaly	Increased spleen size	0001744
Thickened skin	Thick skin	0001072
5%-29% of people have these symptoms
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Anemia		0001903
Autoimmunity	Autoimmune disease Autoimmune disorder [ more ]	0002960
Hypothyroidism	Underactive thyroid	0000821
Lymphoma		0002665
Nephrotic syndrome		0000100
Sepsis		0100806
Short toe	Short toes Stubby toes [ more ]	0001831
Thyroiditis	Thyroid gland inflammation	0100646
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
B lymphocytopenia	Low B cell count	0010976
Diarrhea	Watery stool	0002014
Hypoplasia of the thymus	Small thymus	0000778
Hypoproteinemia		0003075
Recurrent bacterial infections	Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ]	0002718
Recurrent fungal infections		0002841
Recurrent viral infections		0004429
Severe B lymphocytopenia		0005365
Thrombocytopenia	Low platelet count	0001873

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2018

Cause Cause

Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in the absence of RAG mutations.^[1]^[3] Omenn syndrome caused by mutations in ARTEMIS, ADA, ILRA2, ILRA7, CHD7, and DNA ligase 4 have been described in the medical literature. Some cases of Omenn syndrome have also been found in association with 22q11 microdeletion syndrome.^[1]

Last updated: 3/21/2012

Treatment Treatment

The standard treatment for Omenn syndrome is bone marrow transplantation or cord blood stem cell transplantation.^[1]^[2] General care for any patient with severe combined immunodeficiency (SCID), including Omenn syndrome, includes isolation to prevent infection and meticulous skin and mucosal hygienic practices while the patient is awaiting stem cell reconstitution. Broad-spectrum antibiotics may be administered parenterally while cultures and body fluid analyses are in progress. Parenteral nutrition may also be provided as therapy for diarrhea and failure to thrive.^[1] A detailed description of therapeutic options is provided in the referenced eMedicine article.

Last updated: 3/21/2012

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Omenn syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

Primary Immunodeficiency Diseases Registry (PIDR)
Toll-free: 1-800-296-4433
Web site: Primary Immunodeficiency Registry
The Primary Immune Deficiency Treatment Consortium (PIDTC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with severe combined immunodeficiency, Wiskott-Aldrich syndrome, and chronic granulomatous disease through research. The Primary Immune Deficiency Treatment Consortium (PIDTC) has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Canadian Immunodeficiencies Patient Organization (CIPO)
362 Concession Road 12
RR #2
Hastings Ontario K0L 1Y0
Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
E-mail: info@cipo.ca
Website: http://cipo.ca
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Firside Main Road
Downderry
Cornwall PL11 3LE
United Kingdom
Telephone: 44-01503-250-668
E-mail: Info@ipopi.org
Website: http://www.ipopi.org/
Jeffrey Modell Foundation (JMF)
Website: http://www.info4pi.org/
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.
United States Immunodeficiency Network (USIDNET)
Towson, MD 21204-4803
Toll-free: 800-296-4433 (se habla español)
Fax: 410-321-9165
E-mail: info@usidnet.org
Website: http://www.usidnet.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Omenn syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Omenn syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I am the oldest person alive with Omenn Syndrome. I don't know much about it except what my grandmother has told me. She told me that it is an immune deficiency. Can you tell me more about it? See answer

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References References

Schwartz RA, Lin RY. Omenn Syndrome. eMedicine. May 9, 2011; http://emedicine.medscape.com/article/887687-overview. Accessed 3/21/2012.
Aleman K, Noordzij JG, de Groot R, van Dongen JJ, Hartwig NG. Reviewing Omenn syndrome. Eur J Pediatr. 2001; http://www.ncbi.nlm.nih.gov/pubmed/11795679. Accessed 3/21/2012.
Zhang ZY, Ahao XD, Jiang LP, Liu EM, Cui YX, Wang M, Wei H, Yu J, An YF, Yang XQ. Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. Pediatr Allergy Immunol. 2011; http://www.ncbi.nlm.nih.gov/pubmed/21771083. Accessed 3/21/2012.

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