ENFERMEDAD DE WISKOTT ALDRICH PDF

Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy bruising. Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by the clinical triad of microthrombocytopenia, eczema, and recurrent. Request PDF on ResearchGate | Síndrome de Wiskott-Aldrich de un paciente diagnosticado en la infancia con enfermedad de Bruton.

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This article needs additional citations for verification. Charcot—Marie—Tooth disease 2A Hereditary spastic paraplegia Often, leukemia may be suspected on the basis of low platelets and infections, and bone marrow biopsy may be performed.

Hunter syndrome Purine—pyrimidine metabolism: Journal of Leukocyte Biology. Lymphoid and complement immunodeficiency D80—D85 Unsourced material may be challenged and removed. Common variable immunodeficiency ICF syndrome. Clinical and Experimental Immunology.

Wiskott–Aldrich syndrome – Wikipedia

Enlargement of the spleen is not uncommon. Long QT syndrome 4. Diseases of the skin and appendages by morphology. Inenfermedd German research group analysed family members of Wiskott’s three cases, and surmised they probably shared a novel frameshift mutation of the first exon of the WASp gene. Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy.

Purine nucleoside phosphorylase deficiency Hyper IgM syndrome 1. Keratinopathy keratosiskeratodermahyperkeratosis: Purine nucleoside phosphorylase deficiency. Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin: Anemia from bleeding may require iron supplementation or blood transfusion.

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Aspirin and other nonsteroidal anti-inflammatory drugs should be avoided, since these may interfere with platelet function which is already compromised. Typically, IgM levels are low, IgA levels are elevated, and IgE levels may be elevated; paraproteins are occasionally observed. Studies of correcting Wiskott—Aldrich syndrome with gene therapy using a lentivirus have begun. Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3.

Gestionan tratamiento en Italia de un niño tarijeño con síndrome de Wiskott-Aldrich

Expert Opinion on Biological Therapy. The majority of children with WAS develop at least one autoimmune disorderand cancers mainly lymphoma and leukemia develop in up to a third of patients. Robert Anderson Aldrich —an American pediatrician who described the disease in a family of Dutch-Americans in[2] and Dr.

April Learn how and when to remove this template message. X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy. As WAS is primarily a disorder of the blood-forming tissues, a hematopoietic stem cell transplant, accomplished through a umbilical cord blood or bone marrow transplant offers the only current hope of cure.

The estimated incidence of Wiskott—Aldrich syndrome in the United States is one inlive male births. D ICD – Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5. The Journal of Experimental Medicine.

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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.

Retrieved from ” https: Views Read Edit View history. Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome: From Wikipedia, the free encyclopedia. Spontaneous nose bleeds and bloody diarrhea are also common and eczema typically develops within the first month of life.

Tauopathy Cavernous venous malformation. Please help improve this article by adding citations to reliable sources.

Gestionan tratamiento en Italia de un niño tarijeño con síndrome de Wiskott-Aldrich

No geographical factor is present. The rare disorder X-linked neutropenia has also been linked to a specific subset of WAS mutations.

The diagnosis is made on the basis of clinical parameters, the peripheral blood smearand low immunoglobulin levels. Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Not all patients have a positive family history of the disorder; new mutations do occur.

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