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1.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28132690
2.
Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.
J Clin Immunol
; 39(2): 195-199, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30868346
3.
Correction to: Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK.
J Clin Immunol
; 38(4): 537, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29744786
4.
Post-thaw viability of cryopreserved peripheral blood stem cells (PBSC) does not guarantee functional activity: important implications for quality assurance of stem cell transplant programmes.
Br J Haematol
; 174(6): 942-51, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27291859
5.
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
Brain
; 138(Pt 10): 2834-46, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26122121
6.
Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation.
J Allergy Clin Immunol
; 132(5): 1150-5, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23870668
7.
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Clin Immunol
; 149(3): 464-74, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24230999
8.
Health related quality of life and emotional health in children with chronic granulomatous disease: a comparison of those managed conservatively with those that have undergone haematopoietic stem cell transplant.
J Clin Immunol
; 33(1): 8-13, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23011479
9.
Cognitive ability in children with chronic granulomatous disease: a comparison of those managed conservatively with those who have undergone hematopoietic stem cell transplant.
Neuropediatrics
; 44(4): 230-2, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23397467
10.
Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom.
J Allergy Clin Immunol
; 140(2): 628-630.e6, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28343844
11.
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
J Clin Invest
; 133(12)2023 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36976641
12.
Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK.
J Clin Immunol
; 37(3): 279-281, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28337619
13.
Role of immunoglobulin supplementation for secondary immunodeficiency associated with chylothorax after pediatric cardiothoracic surgery.
Pediatr Crit Care Med
; 13(5): 535-41, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22760424
14.
Immunological abnormalities in CHARGE syndrome.
Eur J Med Genet
; 50(5): 338-45, 2007.
Artículo
en Inglés
| MEDLINE | ID: mdl-17684005
15.
A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis.
Br J Haematol
; 150(6): 727-30, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20618327
16.
Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency.
J Allergy Clin Immunol
; 123(2): 505-8, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19203666
17.
Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome.
Pediatrics
; 121(4): e998-1002, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18316354
18.
Initial data on basiliximab in critically ill children undergoing heart transplantation.
J Heart Lung Transplant
; 24(9): 1284-8, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16143246
19.
Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen.
Blood
; 105(2): 879-85, 2005 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-15367433
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