Detalhe da pesquisa
1.
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
J Clin Immunol
; 43(2): 350-357, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36258138
2.
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.
J Clin Immunol
; 43(3): 625-635, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36474126
3.
DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Pediatr Allergy Immunol
; 33(1): e13694, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34738677
4.
Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.
Clin Immunol
; 213: 108366, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32092471
5.
Toll-like receptor 3 (TLR3) variant and NLRP12 mutation confer susceptibility to a complex clinical presentation.
Clin Immunol
; 212: 108249, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31445170
6.
Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency.
Immunol Invest
; 48(4): 431-439, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689480
7.
Hodgkin's lymphoma, nephrotic syndrome, and echinococcosis cysts: an unusual association and literature review.
Pediatr Hematol Oncol
; 36(1): 40-45, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30784346
8.
Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations.
J Clin Immunol
; 37(3): 295-300, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28299599
9.
Fast fluorometric method for measuring circulating cell-free DNA could aid the diagnosis of febrile children.
Acta Paediatr
; 110(5): 1577-1578, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33222298
10.
Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency.
J Allergy Clin Immunol
; 145(3): 1011-1015.e6, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31778705
11.
Cytokine profile of food-allergic post-liver transplant children is identified by high levels of IL-5 and low IL-10 secretion from patients' peripheral blood mononuclear cells.
Pediatr Transplant
; 19(7): 716-21, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26282695
12.
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.
J Allergy Clin Immunol
; 133(3): 807-17, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239102
13.
Defining combined immunodeficiency.
J Allergy Clin Immunol
; 130(1): 177-83, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22664165
14.
Inhaled Nitric Oxide for the Treatment of Acute Bronchiolitis: A Multicenter Randomized Controlled Clinical Trial to Evaluate Dose Response.
Ann Am Thorac Soc
; 20(2): 236-244, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36169967
15.
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.
Eur J Hum Genet
; 31(10): 1101-1107, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599939
16.
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.
Immunol Res
; 70(6): 775-780, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35776314
17.
Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.
Front Immunol
; 13: 801832, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35126392
18.
B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia.
Immunol Res
; 70(2): 216-223, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35001352
19.
Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.
Front Immunol
; 13: 1044933, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36605204
20.
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
J Allergy Clin Immunol Pract
; 10(10): 2722-2731.e9, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35487367