ENFERMEDAD DE WISKOTT ALDRICH PDF

Autoimmunity and Immunodeficiency View all 10 Articles. WASP is a cytoplasmic protein that regulates the formation of actin filaments in hematopoietic cells. Both cellular and humoral immune defects in WAS patients contribute to the onset of severe clinical manifestations, in particular microthrombocytopenia, eczema, recurrent infections, and a high susceptibility to develop autoimmunity and malignancies. Many groups have widely explored immune cell functionality in WAS partially explaining how cellular defects may lead to pathology.

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Wiskott-Aldrich syndrome is a rare X chromosome-linked primary immunodeficiency syndrome associated with an increased incidence of infections, autoimmune disorders and neoplasms. We present the case of a year-old man with a diagnosis of Wiskott-Aldrich syndrome with ileitis as a form of presentation of a lymphoproliferative syndrome.

The ileitis, in the context of the patient, represents a clinical challenge given the large number of differential diagnoses inflammatory bowel disease, infections, neoplasms and lymphoproliferative diseases , so it usually requires anatomopathological diagnosis and particular considerations regarding the subsequent specific treatment.

Keywords: Wiskott-Aldrich; ileitis; lymphoproliferative syndrome. This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

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Save Cancel. Create a file for external citation management software Create file Cancel. Full-text links Cite Favorites. Abstract in English , Spanish. Similar articles [Malignant cutaneous lymphoma in a case of Wiskott-Aldrich syndrome with long-term survival]. Ghilardi G, et al. Minerva Med. PMID: Italian. Ferrua F, et al. Lancet Haematol. Epub Apr Clinical Trial. Byrne AM, et al. Cogn Behav Neurol. PMID: Wiskott-Aldrich syndrome: new molecular and biochemical insights. Peacocke M, Siminovitch KA.

Peacocke M, et al. J Am Acad Dermatol. PMID: Review. Orv Hetil. Show more similar articles See all similar articles. Publication types Case Reports Actions. MeSH terms Adult Actions. Biopsy Actions. Diagnosis, Differential Actions. Humans Actions.

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Wiskott Aldrich syndrome

Wiskott—Aldrich syndrome WAS is a rare X-linked recessive disease characterized by eczema , thrombocytopenia low platelet count , immune deficiency , and bloody diarrhea secondary to the thrombocytopenia. WAS occurs most often in males due to its X-linked recessive pattern of inheritance, affecting between 1 and 10 males per million. 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.

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Wiskott–Aldrich syndrome

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.

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