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IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.
Hsu, Amy P; Pittaluga, Stefania; Martinez, Bianca; Rump, Amy P; Raffeld, Mark; Uzel, Gulbu; Puck, Jennifer M; Freeman, Alexandra F; Holland, Steven M.
Afiliación
  • Hsu AP; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Laboratory of Clinical Infectious Diseases, Bethesda, MD, USA.
J Clin Immunol ; 35(5): 449-53, 2015 Jul.
Article en En | MEDLINE | ID: mdl-26076747
Severe combined immunodeficiency (SCID) is most frequently caused by mutations in the cytokine receptor common gamma chain, CD132, encoded by the X-linked gene, IL2RG. Most patients present in the first year of life with failure to thrive, severe, opportunistic infections and absence of CD3+ T cells. We present a patient with pediatric illness and a diagnosis of combined variable immune deficiency (CVID) who was diagnosed at age 23 with an inherited IL2RG mutation causing loss of signal transduction through CD132. His peripheral blood included CD3/CD4 and CD3/CD8 positive cells as well as low levels of CD19+ B cells containing a reversion to the wildtype IL2RG allele. The reversion, which was not present at birth, may account for his mild phenotype and late diagnosis.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Piel / Bronquiectasia / Linfocitos B / Linfocitos T CD4-Positivos / Inmunodeficiencia Combinada Grave / Linfocitos T CD8-positivos / Subunidad gamma Común de Receptores de Interleucina / Células Progenitoras Linfoides / Infecciones Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male / Newborn Idioma: En Revista: J Clin Immunol Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Piel / Bronquiectasia / Linfocitos B / Linfocitos T CD4-Positivos / Inmunodeficiencia Combinada Grave / Linfocitos T CD8-positivos / Subunidad gamma Común de Receptores de Interleucina / Células Progenitoras Linfoides / Infecciones Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male / Newborn Idioma: En Revista: J Clin Immunol Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos