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

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2018年 / 40卷 / 06期

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

页码：E348 / E349

页数：2

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