Detalhe da pesquisa
1.
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
Am J Hum Genet
; 105(3): 549-561, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447097
2.
Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome.
Biol Blood Marrow Transplant
; 24(3): 537-541, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29196075
3.
Improved diagnostic clarity in shrimp allergic non-dust-mite sensitized patients.
Allergy Asthma Proc
; 39(5): 377-383, 2018 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30153888
4.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577878
5.
Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment.
J Clin Immunol
; 37(5): 461-475, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28536745
6.
Angiostrongylus cantonensis Infection: A Cause of Fever of Unknown Origin in Pediatric Patients.
Clin Infect Dis
; 63(11): 1475-1478, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27578821
7.
Pulmonologist perspectives regarding diagnosis and management of primary immunodeficiency diseases.
Allergy Asthma Proc
; 37(6): 162-168, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27931293
8.
Perceived Health in Patients with Primary Immune Deficiency.
J Clin Immunol
; 35(7): 638-50, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26453585
9.
A 15-year-old boy with severe combined immunodeficiency, fungal infection, and weight gain.
Allergy Asthma Proc
; 36(5): 407-11, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26314823
10.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
11.
Esophageal Intramural Pseudodiverticulosis With Tracking in a Child With Autosomal Dominant Hyper-IgE Syndrome.
J Pediatr Gastroenterol Nutr
; 69(1): e19, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29746342
12.
Construction and validation of a novel disease-specific quality-of-life instrument for patients with primary antibody deficiency disease (PADQOL-16).
J Allergy Clin Immunol
; 139(6): 2007-2010.e8, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065678
13.
Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.
J Allergy Clin Immunol
; 140(4): 1152-1156.e10, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28414062
14.
Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival.
Blood Adv
; 7(9): 1823-1830, 2023 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453638
15.
PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.
PLoS One
; 16(2): e0237285, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33591972
16.
Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency.
J Allergy Clin Immunol
; 134(6): 1451-1453.e1, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159470
17.
Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning.
J Allergy Clin Immunol
; 124(5): 1062-9.e1-4, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19895994
18.
Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.
Front Immunol
; 11: 581475, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33362767
19.
Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome.
J Allergy Clin Immunol
; 128(5): 1115-7.e1-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21835443
20.
Family Physician Perspectives on Primary Immunodeficiency Diseases.
Front Med (Lausanne)
; 3: 12, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066486