Nezelof Syndrome

Important

It is possible that the main title of the report Nezelof Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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• Alymphocytosis, Pure
• Combined Immunodeficiency with Immunoglobulins
• Immune Defect due to Absence of Thymus
• Immunodeficiency Cellular, with Abnormal Immunoglobulin Synthesis
• Severe Combined Immunodeficiency, Nezelof Type
• T-Lymphocyte Deficiency
• Thymic Aplasia, Nezelof's
• Thymic Dysplasia with Normal Immunoglobulins

Disorder Subdivisions

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• None

General Discussion

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Nezelof syndrome (NS) is an extremely rare immune deficiency disorder in which the cells that normally fight off even common infections do not function properly. Affected individuals are subject to frequent and serious infections. Because neither of the two main infection-fighting cells, T cells and B cells, functions properly, Nezelof syndrome is often referred to as a combined immunodeficiency disorder (CID). Patients with this syndrome usually have small thymus glands in which the cells producing hormones required for development of infection-fighting cells are flawed or malfunctioning.



Nezelof syndrome is usually classified as a T cell deficiency, yet those affected do not have abnormal levels of gammaglobulin, a protein in blood that contains disease-fighting antibodies. T cell dysfunction in the presence of relatively normal concentrations of gammaglobulin is one way of defining Nezelof syndrome. Because there is some immunoglobulin function, NS is never as debilitating as severe combined immunodeficiency (SCID).



Nezelof syndrome is an inherited condition that becomes apparent early in the life of the baby.

Resources

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March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Immune Deficiency Foundation

40 West Chesapeake Avenue

Suite 308

Towson, MD 21230

Tel: (410)321-6647

Fax: (410)321-9165

Tel: (800)296-4433

Email: idf@primaryimmune.org

Internet: http://www.primaryimmune.org



NIH/National Institute of Allergy and Infectious Diseases

6610 Rockledge Drive

MSC 6612

Bethesda, MD 20892-6612

Tel: (301)496-5717

Fax: (301)402-3573

TDD: (800)877-8339

Internet: http://www.niaid.nih.gov/



American Academy of Allergy, Asthma and Immunology

611 East Wells Street

Milwaukee, WI 53202

Tel: (414)272-6071

Fax: (414)276-3349

Tel: (800)822-2762

Email: info@aaaai.org

Internet: http://www.aaaai.org



International Patient Organization for Primary Immunodeficiencies

Firside

Main Road

Downderry

Cornwall, PL11 3LE

United Kingdom

Tel: 44 1503 250 668

Fax: 44 1503 250 668

Email: info@ipopi.org

Internet: http://www.ipopi.org/



Jeffrey Modell Foundation

747 Third Ave

34th Floor

New York, NY 10017

USA

Tel: 2128190200

Fax: 2127644180

Tel: 8664696474

Email: info@jmfworld.org

Internet: http://www.info4pi.org

For a Complete Report

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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:   8/18/2006

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