Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency

被引：0

作者：

Reeve, Lucy ^{[1
]}

Preece, Kahn ^{[1
]}

Markle, Janet ^{[1
]}

Casanova, Jean L. ^{[1
]}

Walls, Tony ^{[1
]}

机构：

[1] Christchurch Hosp, Dept Paediat, 2 Riccarton Ave, Christchurch 8011, New Zealand

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 2020年 / 56卷 / 05期

关键词：

DEFICIENCY; INSIGHTS; CELLS; IL-2;

D O I：

10.1111/jpc.14690

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：809 / 811

页数：3

共 11 条

[1] Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder
Liu, Qing
Wang, Yan-Ping
Liu, Qiao
Zhao, Qin
Chen, Xue-Mei
Xue, Xiu-Hong
Zhou, Li-Na
Ding, Yuan
Tang, Xue-Mei
Zhao, Xiao-Dong
Zhang, Zhi-Yong
IMMUNOGENETICS, 2017, 69 (04) : 199 - 209
[2] Leaky severe combined immunodeficiency in mice lacking non-homologous end joining factors XLF and MRI
Castaneda-Zegarra, Sergio
Zhang, Qindong
Alirezaylavasani, Amin
Fernandez-Berrocal, Marion
Yao, Rouan
Oksenych, Valentyn
AGING-US, 2020, 12 (23): : 23578 - 23597
[3] Why Newborn Screening for Severe Combined Immunodeficiency Is Essential: A Case Report
Adeli, Mehdi M.
Buckley, Rebecca H.
PEDIATRICS, 2010, 126 (02) : E465 - E469
[4] Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital
Fallah, Shahrzad
Mesdaghi, Mehrnaz
Mansouri, Mahboubeh
Babaei, Delara
Karimi, Abdollah
Fahimzad, Seyed Alireza
Armin, Shahnaz
Tabatabaei, Sedigheh Rafiei
Azma, Roxana
Khanbabaee, Ghamartaj
Bashardoost, Bahram
Amirmoeini, Mehrdad
Sadr, Saeed
Jalilianhasanpour, Rozita
Ghanaei, Roxana
Rezaei, Nima
Chavoshzadeh, Zahra
IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, 2018, 17 (02) : 201 - 207
[5] Cytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency
Humblet-Baron, Stephanie
Schonefeldt, Susann
Garcia-Perez, Josselyn E.
Baron, Frederic
Pasciuto, Emanuela
Liston, Adrian
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 140 (05) : 1394 - +
[6] Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening
Brown, Lucinda
Xu-Bayford, Jinhua
Allwood, Zoe
Slatter, Mary
Cant, Andrew
Davies, E. Graham
Veys, Paul
Gennery, Andrew R.
Gaspar, H. Bobby
BLOOD, 2011, 117 (11) : 3243 - 3246
[7] Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing
McAuley, Grace E.
Yiu, Gloria
Chang, Patrick C.
Newby, Gregory A.
Campo-Fernandez, Beatriz
Fitz-Gibbon, Sorel T.
Wu, Xiaomeng
Kang, Sung-Hae L.
Garibay, Amber
Butler, Jeffrey
Christian, Valentina
Wong, Ryan L.
Everette, Kelcee A.
Azzun, Anthony
Gelfer, Hila
Seet, Christopher S.
Narendran, Aru
Murguia-Favela, Luis
Romero, Zulema
Wright, Nicola
Liu, David R.
Crooks, Gay M.
Kohn, Donald B.
CELL, 2023, 186 (07) : 1398 - +
[8] A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report
Yan, Lulu
He, Yan
Zhang, Yuxin
Liu, Yingwen
Xu, Limin
Han, Chunxiao
Zhao, Yudan
Li, Haibo
BMC MEDICAL GENOMICS, 2023, 16 (01)
[9] Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literature
Jamee, Mahnaz
Khakbazan Fard, Nasrin
Fallah, Shahrzad
Golchehre, Zahra
Fallahi, Mazdak
Shamsian, Bibi Shahin
Sharafian, Samin
Chavoshzadeh, Zahra
MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (08):
[10] Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guerin disease and Pneumocystis pneumonia
Pan, Ying
Pan, Hui
Lian, Chunan
Wu, Beiyan
Lin, Jieying
Huang, Guang
Cui, Binglin
FRONTIERS IN IMMUNOLOGY, 2022, 13

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