X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature

被引:4
作者
Diaz-Parra, Sandra [1 ]
Lozano-Sanchez, Gema [1 ]
Escobosa-Sanchez, Olga [2 ]
Moreno-Perez, David [3 ]
Morales-Martinez, Antonio [4 ]
Armengol-Niell, Carolina [5 ,6 ]
Acha-Garcia, Tomas [2 ]
机构
[1] Axarquia Hosp, Pediat & Neonatol Unit, East Malaga Sanit Disctr, Axarquia, Spain
[2] Univ Reg Malaga Hosp, Dept Pediat, Paediat Oncol Unit, Ave Arroyo de los Angeles S-N, Malaga 29011, Spain
[3] Univ Reg Malaga Hosp, Dept Pediat, Infect Dis & Immunodeficiencies Unit, Malaga, Spain
[4] Univ Reg Malaga Hosp, Paediat Intens Care Unit, Malaga, Spain
[5] Childhood Liver Oncol Grp, Program Predict & Personalized Med Canc, Campus Can Ruti, Barcelona, Spain
[6] CIBERehd, Biomed Res Network Ctr, Madrid, Spain
关键词
hepatoblastoma; X-linked SCID; pediatrics;
D O I
10.1097/MPH.0000000000001133
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
引用
收藏
页码:E348 / E349
页数:2
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