ENFERMEDAD 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 inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. My husband’s grandmother had three children. Two of her sons with Wiskott Aldrich syndrome (WAS) died at ages 7 and 3. My husband’s father did not have it.

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Expert Opinion on Biological Therapy. By using this site, you agree to the Terms of Use and Privacy Policy. Main differential diagnosis is acute or chronic idiopathic thrombocytopenia ITP or platelet alloimmunization in neonates. Genetic counseling WAS is an X-linked recessive disease.

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.

Wiskott–Aldrich syndrome – Wikipedia

It contains amino acids and is mainly expressed in hematopoietic emfermedad the cells in the bone marrow that develop into blood cells. Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin: The incidence of WAS has been estimated at less than 1 inlive births. X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for wiakott or treatment.

Orphanet: Síndrome de Wiskott Aldrich

Wikipedia articles needing page number citations from July Articles needing additional references from April All articles needing additional references Infobox medical condition new. Tauopathy Cavernous venous malformation. The documents contained in this web site are presented for information purposes only. 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.

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Clinical and Experimental Immunology. Diagnosis is based on family history, physical examination and laboratory investigations that reveal severe thrombocytopenia with reduced platelet size with a usually normal number of megakaryocytes, as well as altered antibody production mainly antipolysaccharidic antibodies.

Check this box if you wish to receive a copy of your message. The Journal of Experimental Medicine. Lymphoid and complement immunodeficiency D80—D85 For patients with frequent infections, intravenous immunoglobulins IVIG can be given to boost the immune system.

The syndrome is named after Dr. Hunter syndrome Purine—pyrimidine metabolism: Health care resources for this disease Expert centres Diagnostic tests 65 Patient organisations 43 Orphan drug s 4.

Long QT syndrome 4 Hereditary spherocytosis 1.

Differential diagnosis Main differential diagnosis is acute or chronic idiopathic thrombocytopenia ITP or platelet alloimmunization in neonates. Views Read Edit View history. Charcot—Marie—Tooth disease 2A Hereditary spastic paraplegia Wiskott—Aldrich syndrome WAS is a rare X-linked recessive disease characterized by eczemathrombocytopenia low platelet countimmune deficiencyand bloody diarrhea secondary to the thrombocytopenia.

Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3.

Often, leukemia may be suspected on the basis of low platelets and infections, and bone marrow biopsy may be performed. April Learn how and when to remove this template message. Freckles lentigo melasma nevus melanoma. Aspirin and other nonsteroidal anti-inflammatory drugs should be avoided, since these may interfere with platelet function which is already compromised.

Absent or decreased WAS protein levels and genetic testing confirm the diagnosis. Hypertrophic cardiomyopathy 3 Nemaline myopathy 1. No geographical factor is present.

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Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy. The only curative treatment to date is hematopoietic stem cell transplantation HSCTperformed as soon as possible with the best matched HLA donor. Additional information Further information on this disease Classification s 5 Gene s 2 Disability Clinical signs and symptoms Publications in PubMed Other website s Robert Anderson Aldrich —an American pediatrician who described the disease in a family of Dutch-Americans in[2] and Dr.

Wiskott–Aldrich syndrome

Anemia from bleeding may require iron supplementation wwiskott blood transfusion. Unsourced material may be challenged and removed. This page was last edited on 14 Novemberat Common variable immunodeficiency ICF syndrome. Spontaneous nose bleeds and bloody diarrhea are also common and eczema typically develops within the first month of life.

Acute or chronic eczema is the second characteristic finding of WAS. Wiskott—Aldrich eiskott has an X-linked recessive pattern of inheritance. The New England Journal of Medicine. Ina 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.

Disease definition Wiskott-Aldrich syndrome WAS is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for wismott manifestations and malignancies. A protective helmet can protect children from bleeding into the brain which could result from head injuries.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Color blindness red aiskott green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: