Nezelof Syndrome

National Organization for Rare Disorders, Inc.

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)997-4488
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 21204
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
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
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: david@ipopi.org
Internet: http://www.ipopi.org/

Jeffrey Modell Foundation
747 Third Avenue
34th Floor
New York, NY 10017
USA
Tel: (212)819-0200
Fax: (212)764-4180
Tel: (866)469-6474
Email: info@jmfworld.org
Internet: http://www.info4pi.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

European Society for Immunodeficiencies (ESID)
c/o Dr. Bodo Grimbacher (ESID Board Member)
Division of Rheumatology and Clinical Immunology
Department of Medicine, University Hospital Freiburg
Hugstetter Strasse 55
Freiburg, D-79106
Germany
Tel: +31 73-6992965
Fax: +31 73-6992948
Email: info@esid.org
Internet: http://www.esid.org

For a Complete Report

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

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