Detalhe da pesquisa
1.
Phase 3 randomized trial of mavorixafor, CXCR4 antagonist, in WHIM syndrome.
Blood
; 2024 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643510
2.
Comprehensive phenotypic analysis of diverse FOXN1 variants.
J Allergy Clin Immunol
; 152(5): 1273-1291.e15, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419334
3.
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.
J Allergy Clin Immunol
; 151(1): 233-246.e10, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152823
4.
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment.
J Clin Immunol
; 44(1): 32, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38133694
5.
SARS-CoV-2 infection associated with hepatitis in an infant with X-linked severe combined immunodeficiency.
Clin Immunol
; 224: 108662, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33412294
6.
Connecting the Dots From Fever of Unknown Origin to Myelodysplastic Syndrome: GATA2 Haploinsufficiency.
J Pediatr Hematol Oncol
; 42(5): e365-e368, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31033783
7.
A late preterm infant with lymphopenia.
Allergy Asthma Proc
; 41(2): 141-143, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32122450
8.
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Blood
; 130(13): 1553-1564, 2017 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28778864
9.
Refractory macrophage activation syndrome in the setting of adult-onset Still disease with hemophagocytic lymphohistiocytosis detected on skin biopsy treated with canakinumab and tacrolimus.
J Cutan Pathol
; 46(7): 528-531, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30927277
10.
Macrophage Activation Syndrome Complicated by Toxic Epidermal Necrolysis Following SARS-CoV-2 mRNA Vaccination.
J Clin Immunol
; 43(3): 521-524, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36441289
11.
What's in a name? The heterogeneous clinical spectrum and prognostic factors in a cohort of adults with hemophagocytic lymphohistiocytosis.
Transfus Apher Sci
; 57(6): 779-784, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327177
12.
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
J Allergy Clin Immunol
; 139(4): 1282-1292, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27697500
13.
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.
J Allergy Clin Immunol
; 131(4): 1136-45, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23384681
14.
CVID-associated intestinal disorders in the USIDNET registry: An analysis of disease manifestations, functional status, comorbidities, and treatment.
Res Sq
; 2023 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37214897
15.
Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
J Crohns Colitis
; 17(1): 49-60, 2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907265
16.
Obstructive hydrocephalus and intracerebral mass secondary to Epicoccum nigrum.
Med Mycol Case Rep
; 35: 18-21, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35036296
17.
Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome.
J Clin Invest
; 132(22)2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136514
18.
Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease.
J Clin Invest
; 132(2)2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040435
19.
The mammalian SKIV2L RNA exosome is essential for early B cell development.
Sci Immunol
; 7(72): eabn2888, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35658009
20.
Lymphomatoid granulomatosis of the central nervous system (CNS-LYG) posing a management challenge.
Clin Case Rep
; 9(9): e04808, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34512987