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

共 50 条

[1] Disease as the initial presentation of X-linked severe combined immunodeficiency - A case report
Huang, LH
Shyur, SD
Weng, JD
Shin-Chi
Tzen, CY
Huang, FY
ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, 2005, 23 (04): : 221 - 226
[2] X-linked severe combined immunodeficiency
Church, AC
HOSPITAL MEDICINE, 2002, 63 (11): : 676 - 680
[3] X-LINKED SEVERE COMBINED IMMUNODEFICIENCY
CONLEY, ME
CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1991, 61 (02): : S94 - S99
[4] Canine X-linked severe combined immunodeficiency
Felsburg, PJ
Somberg, RL
Hartnett, BJ
Henthorn, PS
Carding, SR
IMMUNOLOGIC RESEARCH, 1998, 17 (1-2) : 63 - 73
[5] X-LINKED SEVERE COMBINED IMMUNODEFICIENCY IN THE DOG
JEZYK, PF
FELSBURG, PJ
HASKINS, ME
PATTERSON, DF
CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1989, 52 (02): : 173 - 189
[6] Mosaicism in X-linked severe combined immunodeficiency
Ting, SS
Ziegler, J
Leigh, D
Kemp, A
Lindeman, R
JOURNAL OF PEDIATRICS, 1998, 133 (04): : 575 - 576
[7] BCG vaccineDisseminated BCG infection in an infant with x-linked severe combined immunodeficiency: case report
Reactions Weekly, 2009, 1252 (1) : 12 - 12
[8] Gene therapy for X-linked severe combined immunodeficiency
Huifang Lu
David Huston
Current Allergy and Asthma Reports, 2003, 3 (5) : 376 - 377
[9] Gene therapy of X-linked severe combined immunodeficiency
Cavazzana-Calvo, Marina
Hacein-Bey-Abina, Salima
Fischer, Alain
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, 2002, 2 (06) : 507 - 509
[10] Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency
Grunebaum, E
Zhang, J
Dadi, H
Roifman, CM
BRITISH JOURNAL OF HAEMATOLOGY, 2000, 108 (04) : 834 - 837

← 1 2 3 4 5 →