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Leukocyte Adhesion Deficiency Syndromes

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Amos Etzioni, MD, Professor of Pediatrics and Immunology, Director of Meyer Children's Hospital, Bat-Galim, Haifa, Israel, for assistance in the preparation of this report.

Synonyms of Leukocyte Adhesion Deficiency Syndromes

  • LAD syndromes

Disorder Subdivisions

  • congenital disorder of glycosylation type II c
  • LAD I
  • LAD II
  • LAD III
  • leukocyte adhesion deficiency type I
  • leukocyte adhesion deficiency type II
  • leukocyte adhesion deficiency type III
  • Rambon-Hasharon syndrome

General Discussion

Leukocyte adhesions deficiency (LAD) syndromes are a group of rare disorders affecting the immune system. LAD syndromes are characterized by defects affecting how white blood cells (leukocytes) respond and travel to the site of a wound or infection. Three distinct types of leukocyte adhesion syndrome have been identified. The specific symptoms and the severity of LAD syndromes vary from one person to another. All affected individuals develop an increased susceptibility to developing recurrent bacterial and fungal infections. Additional symptoms may occur depending upon the specific subtype present. LAD syndromes are caused by mutations of specific genes that contain instructions for creating certain proteins that are necessary for white blood cells to travel from the bloodstream to the site of an infection or inflammation. Individuals with severe forms of LAD may have near complete absence of these proteins. Individuals who have milder forms of LAD syndromes have deficient levels of these proteins, but retain some residual protein activity.

Leukocyte Adhesion Deficiency Syndromes Resources

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