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

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

None

General Discussion

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

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

European Society for Immunodeficiencies (ESID)
c/o Dr. Esther de Vries
Jeroen Bosch Hospital
Dept. Paediatrics
P.O. Box 90153
Hertogenbosch, 5200 ME's
Netherlands
Tel: +31 73-6992965
Fax: +31 73-6992948
Email: info@esid.org
Internet: http://www.esid.org

For a Complete Report

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: 9/23/2007
Copyright 1986, 1988, 1993, 1996, 1997, 1998, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.

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