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1.
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.
J Allergy Clin Immunol
; 151(1): 233-246.e10, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36152823
2.
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Blood
; 135(23): 2094-2105, 2020 06 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32268350
3.
The rise of haplo: a quest for the perfect graft.
Blood
; 143(3): 193-195, 2024 Jan 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-38236615
4.
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
J Clin Immunol
; 40(8): 1211-1213, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32860171
5.
Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
J Clin Immunol
; 39(7): 653-667, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31376032
6.
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
J Allergy Clin Immunol
; 139(5): 1629-1640.e2, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28139313
7.
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.
Proc Natl Acad Sci U S A
; 111(24): 8889-94, 2014 Jun 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-24889605
8.
Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1ß inhibition.
J Allergy Clin Immunol
; 144(4): 1122-1125.e6, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31271789
9.
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
J Allergy Clin Immunol
; 134(1): 155-9, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24767876
10.
Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.
J Allergy Clin Immunol
; 143(5): 1952-1956.e6, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30682461
11.
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.
J Allergy Clin Immunol
; 142(5): 1665-1669, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30092289
12.
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
J Allergy Clin Immunol
; 132(3): 656-664.e17, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23830146
13.
Trans locus inhibitors limit concomitant polysaccharide synthesis in the human gut symbiont Bacteroides fragilis.
Proc Natl Acad Sci U S A
; 107(26): 11976-80, 2010 Jun 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-20547868
14.
Precision Delivery of Steroids as a Rescue Therapy for Gastrointestinal Graft-versus-Host Disease in Pediatric Stem Cell Transplant Recipients.
J Clin Med
; 12(13)2023 Jun 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37445274
15.
Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
Front Immunol
; 14: 1328005, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38347954
16.
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
JCI Insight
; 7(24)2022 12 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36546480
17.
Insight into the pediatric and adult dichotomy of COVID-19: Age-related differences in the immune response to SARS-CoV-2 infection.
Pediatr Pulmonol
; 55(10): 2556-2564, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32710693
18.
Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.
Blood Adv
; 4(12): 2611-2616, 2020 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32556283
19.
Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Front Immunol
; 11: 239, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32153572
20.
First reported case of Omenn syndrome in a patient with reticular dysgenesis.
J Allergy Clin Immunol
; 131(4): 1227-30, 1230.e1-3, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23014587