including oral candidal infections, pneumonia, and diarrhea. This is a rare is a rare X-linked recessive Wiskott-Aldrich syndrome (WAS) syndrome. It is defined by the triad of what? Immunodeficiency, eczema, and thrombocytopenia. WAS is usually lethal in childhood Infection, hemorrhage, or malignancy. because of? Abnormalities exist in both the cellular Antigen processing and humoral arms of the immune system, related to a general defect in what? This manifests as a severe deficiency of Blood group antigens (isohemagglutinins). the naturally occurring antibodies to what antigens? In addition, these patients have Serum alpha-fetoprotein. persistently increased levels of what? What is the primary molecular defect in It appears to be an abnormality of the integral the syndrome? membrane protein CD43, which is involved in the regulation of protein glycosylation. Abnormalities cause defective in what? Actin polymerization It also affects its signal transduction in Lymphocytes and platelets what? The laboratory features of WAS include A decrease in platelet number and size, prolonged what? bleeding time, and bone marrow changes with a normal or somewhat increased number of megakaryocytes This is a rare autosomal recessive Ataxia-telangiectasia (AT) syndrome characterized by cerebellar ataxia and telangiectasias, especially on the earlobes and conjunctiva. Blood vessels in the sclera of the eyes Reddish butterfly area on the face and ears. may be dilated, and there may also be this characteristic rash on part of the face. What disease do 95 percent of patients’ WAS or Ataxia-telangiectasia (AT) exhibit increased levels of serum Check book Abnormal genes produce a combined Both humoral and cellular immunity defect in this type of immunity. Antibody response to antigens, polysaccharides especially to this, is blunted. What levels immunoglobulin’s are IgG2, IgA, and IgE low or absent, although the pattern can be quite variable? In addition, the number of circulating T cells what type of cells is often decreased.
including oral candidal infections, pneumonia, and diarrhea. This is a rare is a rare X-linked recessive syndrome. Wiskott-Aldrich syndrome (WAS) It is defined by the triad of what? Immunodeficiency, eczema, and thrombocytopenia. WAS is usually lethal in childhood because of? Infection, hemorrhage, or malignancy. Abnormalities exist in both the cellular and humoral arms of the immune system, related to a general defect in what? Antigen processing This manifests as a severe deficiency of the naturally occurring antibodies to what antigens? Blood group antigens (isohemagglutinins). In addition, these patients have persistently increased levels of what? Serum alpha-fetoprotein. What is the primary molecular defect in the syndrome? It appears to be an abnormality of the integral membrane protein CD43, which is involved in the regulation of protein glycosylation. Abnormalities cause defective in what? Actin polymerization It also affects its signal transduction in what? Lymphocytes and platelets The laboratory features of WAS include what? A decrease in platelet number and size, prolonged bleeding time, and bone marrow changes with a normal or somewhat increased number of megakaryocytes This is a rare autosomal recessive syndrome characterized by cerebellar ataxia and telangiectasias, especially on the earlobes and conjunctiva. Ataxia-telangiectasia (AT) Blood vessels in the sclera of the eyes may be dilated, and there may also be this characteristic rash on part of the face. Reddish butterfly area on the face and ears. What disease do 95 percent of patients’ exhibit increased levels of serum WAS or Ataxia-telangiectasia (AT) Check book Abnormal genes produce a combined defect in this type of immunity. Both humoral and cellular immunity Antibody response to antigens, especially to this, is blunted. polysaccharides What levels immunoglobulin’s are low or absent, although the pattern can be quite variable? IgG2, IgA, and IgE In addition, the number of circulating what type of cells is often decreased. T cells