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A 3D model of cell surface receptor CXCR4, which causes the conditions in WHIM syndrome

WHIM syndrome: Warts, hypogammaglobulinemia, infections and myelokathexis



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A 3D model of cell surface receptor CXCR4, which causes the conditions in WHIM syndrome
Alicia M Prater PhD's image for:
"WHIM syndrome: Warts, hypogammaglobulinemia, infections and myelokathexis"
Caption: A 3D model of cell surface receptor CXCR4, which causes the conditions in WHIM syndrome
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Image by: S. Jahnichen
© Creative Commons, Attribution Share-alike http://commons.wikimedia.org/wiki/File:3OE9_%28CXCR4%29.png

WHIM syndrome is a rare, autosomal dominant genetic disorder that affects the immune system. The condition is named from the acronym formed by four conditions: warts, hypogammaglobulinemia, infections (or immunodeficiency) and myelokathexis. The first symptoms of the disorder usually present as recurring infections in early childhood, followed by the appearance of warts on various parts of the body. The conditions are caused by mutations in the gene encoding the immune receptor CXC chemokine receptor 4 (CXCR4), causing it to be overactive.

Warts

Individuals with WHIM syndrome are unusually susceptible to human papillomavirus (HPV) infection. Infection with human papillomavirus (HPV), which is normally cleared by the immune system, causes warts on the skin and genitals. The warts can appear on any part of the body, and warts associated with WHIM syndrome are particularly difficult to treat according to the Genetic Disease Foundation. Genital warts, particularly those of the cervix, can eventually lead to cancer.

Hypogammaglobulinemia

Hypogammaglobulinemia is the medical term for low immunoglobulin levels. Immunoglobulins are proteins produced by immune cells against an immunogen, a foreign protein that activates the immune system. They are known more popularly as antibodies and consist of many types, such as IgG, IgA and IgE. Blood tests can confirm the lack of antibodies in the blood, and the condition can be treated by antibody replacement therapy.

Infections

The first sign of WHIM syndrome is frequent bacterial infections. The most common bacteria cause sinusitis, sore throat, cavities or other dental infections, and ear infection (known as otitis media). Less common are infections causing pneumonia, bronchitis, boils, skin abscesses, cellulitis and joint inflammation. Over time the pattern of recurrent infection will become clear, so diagnosis of WHIM may take the duration of childhood. Vaccinations, preventative antibiotic therapy and medications that increase the cell count of particular immune cells can help reduce the occurrence of infection and prevent the complications of immune deficiency that allow this degree of infection. Complications can include tooth loss, reduced lung function and hearing loss.

Myelokathexis

Myelokathexis, sometimes known simply as kathexis, is a trapping or retention of the white blood cells (immune cells) in the bone marrow where they are produced. This results in a condition known as neutropenia – a reduced number of neutrophils circulating in the blood. This can be determined by a blood test called the white blood cell count (WBC). During infection the cells are released from the bone marrow, so treatment with antibiotics is helpful. Neutrophils are responsible for destroying invading organisms before they can cause an infection. Their absence is why common organisms so easily cause infections in individuals with WHIM syndrome, allowing the other conditions that comprise the syndrome to occur. Treatment with a stimulating factor has been found to be helpful.

WHIM syndrome

The immunodeficiency in patients with WHIM syndrome is caused by and manifests as the four disorders that comprise the acronym. Genetic mutations underlying hypogammaglobulinemia and myelokathexis can't yet be corrected, but the infections they allow can be treated and the immune system stimulated.

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ARTICLE SOURCES AND CITATIONS
  • InfoBoxCallToAction ActionArrowhttp://rarediseases.info.nih.gov/GARD/Condition/9297/WHIMS.aspx
  • InfoBoxCallToAction ActionArrowhttp://www.geneticdiseasefoundation.org/genetic-diseases/whim-syndrome/
  • InfoBoxCallToAction ActionArrowhttp://pathmicro.med.sc.edu/mayer/IgStruct2000.htm
  • InfoBoxCallToAction ActionArrowhttp://www.medilexicon.com/medicaldictionary.php?t=46708