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1.
A longitudinal prospective study of active tuberculosis in a Western Europe setting: insights and findings.
Infection
; 52(2): 611-623, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38349459
2.
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
J Clin Immunol
; 43(8): 1953-1963, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37597073
3.
Performance of QuantiFERON-TB Gold Plus assays in paediatric tuberculosis: a multicentre PTBNET study.
Thorax
; 78(3): 288-296, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36283826
4.
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction.
Nucleic Acids Res
; 49(9): 5057-5073, 2021 05 21.
Article
in English
| MEDLINE | ID: mdl-33950194
5.
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
J Clin Immunol
; 42(5): 1071-1082, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35486339
6.
Accuracy of Xpert Ultra for the diagnosis of paediatric tuberculosis in a low TB burden country: a prospective multicentre study.
Thorax
; 77(10): 1023-1029, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36357344
7.
Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies.
J Immunol
; 205(11): 2979-2987, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33115853
8.
Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity.
Eur J Pediatr
; 181(11): 3889-3898, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36102997
9.
Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome.
J Clin Immunol
; 41(7): 1457-1462, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34089457
10.
Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies.
J Clin Immunol
; 40(4): 602-609, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32291562
11.
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
J Clin Immunol
; 40(7): 987-1000, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32671674
12.
Diagnostic Accuracy of QuantiFERON-TB Gold Plus Assays in Children and Adolescents with Tuberculosis Disease.
J Pediatr
; 223: 212-215.e1, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32334890
13.
Epidemiology of congenital Chagas disease 6 years after implementation of a public health surveillance system, Catalonia, 2010 to 2015.
Euro Surveill
; 24(26)2019 Jun.
Article
in English
| MEDLINE | ID: mdl-31266591
14.
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Crit Rev Clin Lab Sci
; 55(3): 184-204, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29502462
15.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Clin Immunol
; 191: 44-51, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29572183
16.
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Clin Immunol
; 195: 49-58, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30063981
17.
Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer.
J Clin Lab Anal
; 32(6): e22420, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29603375
18.
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
J Clin Immunol
; 37(8): 781-789, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28942469
19.
Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.
Clin Immunol
; 163: 60-5, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26748374
20.
Novel Mutations Causing C5 Deficiency in Three North-African Families.
J Clin Immunol
; 36(4): 388-96, 2016 05.
Article
in English
| MEDLINE | ID: mdl-27026170