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WHIM Syndrome

Abstract

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NORD is very grateful to David H. McDermott, MD, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, for assistance in the preparation of this report.

Synonyms of WHIM Syndrome

  • warts, hypogammaglobulinemia, infections and myelokathexis syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
WHIM syndrome is a rare primary immunodeficiency disorder, which are disorders in which the body’s immune system does not function properly. WHIM is an acronym for some of the characteristic symptoms of the disorder - (w)arts, (h)ypogammaglobulinemia, (i)nfections, and (m)yelokathexis. Individuals with WHIM syndrome are more susceptible to potentially life-threatening bacterial infections. To a lesser extent, they are also predisposed to viral infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to cancer. Affected individuals have extremely low levels of certain white bloods (neutrophils) in the blood (neutropenia). In most cases, WHIM syndrome is caused by mutations of the CXCR4 gene. This mutation is inherited as an autosomal dominant trait.

Introduction
WHIM syndrome is a primary immunodeficiency disorder, one of a group of disorders characterized by irregularities in the cell development and/or cell maturation process of the immune system. The immune system is divided into several components, the combined actions of which are responsible for defending against infectious agents. The T cell system (cell-mediated immune response) contributes to fighting several viruses, some bacteria and yeast and fungi. The B cell system (humoral immune response) fights infection caused by other viruses and bacteria. It does so by secreting immune factors called antibodies (also known as immunoglobulins) into the fluid portion of the blood (serum) and body secretions (e.g. saliva). There are five classes of immunoglobulins (Ig) known as IgA, IgD, IgE, IgG, and IgM. Antibodies can directly kill microorganisms or coat them so they are more easily destroyed by white blood cells.

WHIM Syndrome Resources

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