Detalhe da pesquisa
1.
Sensory neurons promote immune homeostasis in the lung.
Cell
; 187(1): 44-61.e17, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38134932
2.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316189
3.
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
4.
Inborn errors of immunity manifesting as atopic disorders.
J Allergy Clin Immunol
; 148(5): 1130-1139, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34428518
5.
All hands on deck: A multidisciplinary approach to SARS-CoV-2-associated MIS-C.
Paediatr Child Health
; 27(Suppl 1): S53-S58, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35620558
6.
Looking through the FOG: microbiome characterization and lipolytic bacteria isolation from a fatberg site.
Microbiology (Reading)
; 167(12)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34870579
7.
Ruxolitinib as adjunctive therapy for secondary hemophagocytic lymphohistiocytosis: A case series.
Eur J Haematol
; 106(5): 654-661, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33523540
8.
Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: A call for access to genetic testing.
Pediatr Allergy Immunol
; 32(8): 1796-1803, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097760
9.
Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
BMC Pediatr
; 21(1): 45, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33472608
10.
Recurrent sterile abscesses in a case of X-linked neutropenia.
Pediatr Dermatol
; 37(4): 742-744, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202653
11.
Should 'primary immune disorder' replace 'inborn error of immunity'? Names matter but there's room for both.
J Allergy Clin Immunol
; 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649118
12.
Germline CBM-opathies: From immunodeficiency to atopy.
J Allergy Clin Immunol
; 143(5): 1661-1673, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060714
13.
Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency.
Pediatr Allergy Immunol
; 35(2): e14077, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351878
14.
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.
J Clin Immunol
; 43(6): 1139-1142, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37115363
15.
DOCK8 deficiency: Insights into pathophysiology, clinical features and management.
Clin Immunol
; 181: 75-82, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28625885
16.
Targeted treatment of immune thrombocytopenia in CTLA-4 insufficiency: a case report.
Br J Haematol
; 196(3): e42-e45, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628649
17.
Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 138(3): 852-859.e3, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27130861
18.
Tout le monde sur le pont : une approche multidisciplinaire du SRAS-CoV-2 associé au SIME.
Paediatr Child Health
; 27(Suppl 2): S136-S142, 2022 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-36092300
19.
Enumeration of sulphate-reducing bacteria for assessing potential for hydrogen sulphide production in urban drainage systems.
Water Sci Technol
; 73(12): 3087-94, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27332857
20.
Amelioration of COVID-19-related cytokine storm syndrome: parallels to chimeric antigen receptor-T cell cytokine release syndrome.
Br J Haematol
; 190(3): e150-e154, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32584416