Affected patients have mutations in the gene encoding Wiskott-Aldrich syndrome protein WASP , a key regulator of signaling and reorganization of the cytoskeleton in hematopoietic cells. Mutations in WASP gene lead to a wide clinical spectrum ranging from thrombocytopenia, immunodeficiency, eczema and high susceptibility to tumor development and manifestations such as skin infections, suppurative otitis and pneumonia. Clinical symptoms start around the age of 6 months. The laboratory tests show low platelet count and small size, but definitive diagnosis can only be confirmed by the demonstration of mutations in WASP gene.
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Spontaneous nose bleeds and bloody diarrhea are also common and eczema typically develops within the first month of life. Recurrent bacterial infections develop by three months. The majority of children with WAS develop at least one autoimmune disorder , and cancers mainly lymphoma and leukemia develop in up to a third of patients.
WAS patients have increased susceptibility to infections, particularly of the ears and sinuses, and this immune deficiency has been linked to decreased antibody production and the inability of immune T cells to effectively combat infection. The rare disorder X-linked neutropenia has also been linked to a specific subset of WAS mutations.
It contains amino acids and is mainly expressed in hematopoietic cells the cells in the bone marrow that develop into blood cells. Alleles that produce no or truncated protein have more severe effects than missense mutations. Typically, IgM levels are low, IgA levels are elevated, and IgE levels may be elevated; paraproteins are occasionally observed. Not all patients have a positive family history of the disorder; new mutations do occur.
Often, leukemia may be suspected on the basis of low platelets and infections, and bone marrow biopsy may be performed. Decreased levels of WASp are typically observed. Jin et al. Aspirin and other nonsteroidal anti-inflammatory drugs should be avoided, since these may interfere with platelet function which is already compromised. A protective helmet can protect children from bleeding into the brain which could result from head injuries.
For severely low platelet counts, patients may require platelet transfusions or removal of the spleen. For patients with frequent infections, intravenous immunoglobulins IVIG can be given to boost the immune system. Anemia from bleeding may require iron supplementation or blood transfusion. As WAS is primarily a disorder of the blood-forming tissues, a hematopoietic stem cell transplant, accomplished through an umbilical cord blood or bone marrow transplant offers the only current hope of cure.
This may be recommended for patients with HLA -identical donors, matched sibling donors, or even in cases of incomplete matches if the patient is age 5 or under. Studies of correcting Wiskott—Aldrich syndrome with gene therapy using a lentivirus have begun. Epidemiology[ edit ] The estimated incidence of Wiskott—Aldrich syndrome in the United States is one in , live male births. No geographical factor is present. Alfred Wiskott — , a German pediatrician who first noticed the syndrome in ,  and Dr.
Robert Anderson Aldrich — , an American pediatrician who described the disease in a family of Dutch-Americans in
Syndrome de Wiskott-Aldrich
This article needs additional citations for verification. For severely low platelet counts, patients may require platelet transfusions or removal of the spleen. X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy. Clinical and Experimental Immunology. Spontaneous nose bleeds and bloody diarrhea are also common and eczema typically develops within the first month of qiskott.
Síndrome de Wiskott-Aldrich
ENFERMEDAD DE WISKOTT ALDRICH PDF