MYELOKATHEXIS

MYELOKATHEXIS

Definition

Myelokathexis is a congenital disorder of the white blood cells that causes severe, chronic leukopenia (a reduction of circulating white blood cells) and neutropenia (a reduction of neutrophil granulocytes). The disorder is believed to be inherited in an autosomal dominant manner

Myelokathexis refers to the failure of neutrophils, infection-fighting white blood cells, to move from the bone marrow into the bloodstream, where they can patrol the body.

Myelokathexis: Impaired egress of mature neutrophils from bone marrow causing neutropenia. The word myelo-kathexis is derived from the Greek words for marrow (myelo)retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments.

Causes of Myelokathexis

Some of the possible causes of Myelokathexis or similar disorders may include:
WHIM syndrome (Myelokathexis Syndrome, myelokathexis)

Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome (WHIMS)

WHIM syndrome is a rare immune disorder named after its symptoms. People with WHIM syndrome have low levels of infection-fighting white blood cells, especially neutrophils, in their bloodstream. This deficiency predisposes them to frequent infections and persistent warts.

What is WHIM syndrome?

WHIM syndrome is a hereditary condition in which the immune system (the body’s natural defences) does not work properly, making patients more susceptible to viral and bacterial infections.

WHIM stands for warts (skin growths), hypogammaglobulinemia (low level of antibodies), infections and myelokathexis (a disorder causing low levels of white blood cells).

Patients with the condition have warts in the hands and feet caused by viral infections, and are at risk of recurrent bacterial infections due to low levels of neutrophils and lymphocytes (types of white blood cells) and of antibodies produced by the white bloods cells to fight infections.

WHIM syndrome is a long-term debilitating and life-threatening condition because of the recurrent infections which increase the risk of developing cancer.

Causes of WHIM syndrome

WHIM syndrome is caused by mutations in the CXC chemokine receptor 4 (CXCR4) gene. One of the many functions of CXCR4 is to tether white blood cells to the bone marrow, where the cells originate. WHIM syndrome mutations result in excessive CXCR4 activity, which traps the cells inside the bone marrow and prevents their movement into the bloodstream and the rest of the body.

Signs and Symptoms of WHIM syndrome

People with WHIM syndrome experience the following symptoms:

Warts of the skin, mouth, and genitals caused by human papillomavirus (HPV)

Hypogammaglobulinemia,a deficiency in specific infection-fighting antibodies in the blood

Infections that recur frequently

Myelokathexis, the failure of neutrophils, a type of white blood cell, to move from the bone marrow into the bloodstream

WHIM syndrome patients also have trouble distributing most other types of immune cells to the blood. Such defects in the immune system predispose WHIM syndrome patients to frequent infections and an increased risk of developing cancer caused by HPV.

 

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