Author: Diaz-Parra, Sandra; Lozano-Sanchez, Gema; Escobosa-Sanchez, Olga; Moreno-Perez, David; Morales-Martinez, Antonio; Armengol-Niell, Carolina; Acha-Garcia, Tomás
Title: X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature. Cord-id: 52aein70 Document date: 2018_1_1
ID: 52aein70
Snippet: Severe combined immunodeficiency is an inherited disease with profoundly defective T cells, B cells, and natural killer cells. X-linked severe combined immunodeficiency is the most common form. In this report, we describe a 4-month-old male infant who was admitted to our hospital with progressive breathlessness and abdominal mass. He was diagnosed with hepatoblastoma and presented a pneumocystis jirovecii pneumonia at the beginning of chemotherapy. Definitive diagnosis of X-linked severe combine
Document: Severe combined immunodeficiency is an inherited disease with profoundly defective T cells, B cells, and natural killer cells. X-linked severe combined immunodeficiency is the most common form. In this report, we describe a 4-month-old male infant who was admitted to our hospital with progressive breathlessness and abdominal mass. He was diagnosed with hepatoblastoma and presented a pneumocystis jirovecii pneumonia at the beginning of chemotherapy. Definitive diagnosis of X-linked severe combined immunodeficiency was established by DNA analysis of the interleukin 2 receptor gamma chain gene. This case is the first report which describes an X-linked severe combined immunodeficiency patient with hepatoblastoma.
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