117(2 suppl mini-primer):S435-41.Ĭachafeiro T, Escobar G, Bakos L, Bakos R. Update on primary immunodeficiency diseases. Updated August 21, 2006.īonilla FA, Geha RS. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. 117(5):1270-81.Ĭavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al. Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model. Khiong K, Murakami M, Kitabayashi C, et al.
Gene therapy for severe combined immunodeficiency: are we there yet?. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, et. Although antibody deficiency is associated with recurrent encapsulated bacteria infections, T-cell disorders or SCID are associated with opportunistic infections with fungi, viruses, or intracellular bacteria. Diarrhea with failure to thrive in children with SCID is usually related to infections with viruses such as rotaviruses and adenoviruses. or atypical mycobacterial infection and recurrent or persistent skin candidiasis are suggestive of T-cell disorders or SCID. Pneumonia with Pneumocystis jirovecii or cytomegalovirus (CMV), disseminated bacillus Calmette-Guerin (BCG) infection, Upper and lower respiratory tract infections, skin infections, meningitis, bacteremias, and abscesses are common in persons with B-cell disorders. In addition, a careful family history of risk factors for human immunodeficiency virus (HIV) should be obtained to rule out secondary forms of immunodeficiency. It is also important to inquire about consanguineous relationships because consanguinity increases the risk of immune disorders that have autosomal recessive inheritance patterns (eg, some forms of SCID or chronic granulomatous disease ). Clinicians should focus attention on the family history, site of infection, type of microorganisms, and any adverse reactions to transfusion of blood products, which may provide clues to the significance and type of immune deficiency.
0 kommentar(er)
