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1.
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.
Nat Immunol
; 22(5): 607-619, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33833438
2.
Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Nat Immunol
; 23(5): 815, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35332329
3.
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Proc Natl Acad Sci U S A
; 120(46): e2314225120, 2023 Nov 14.
Article
in English
| MEDLINE | ID: mdl-37931111
4.
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Nat Immunol
; 13(6): 612-20, 2012 May 13.
Article
in English
| MEDLINE | ID: mdl-22581261
5.
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
J Allergy Clin Immunol
; 152(6): 1634-1645, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37595759
6.
Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.
Clin Immunol
; 253: 109691, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37433423
7.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
J Clin Immunol
; 43(8): 1882-1890, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37507632
8.
Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: Report of two cases and literature review.
Pediatr Transplant
; 27(2): e14439, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36394186
9.
Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.
Int J Immunogenet
; 50(4): 177-184, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37308802
10.
Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.
Cent Eur J Immunol
; 48(3): 228-236, 2023.
Article
in English
| MEDLINE | ID: mdl-37901871
11.
Long-Term Experience of Subcutaneous Immunoglobulin Therapy in Pediatric Primary Immunodeficient Patients with Low and Normal Body Weight.
J Clin Immunol
; 42(1): 64-71, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34617265
12.
Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation.
J Autoimmun
; 132: 102891, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36113303
13.
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Allergy
; 77(10): 3108-3123, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35491430
14.
Memory B cells and serum immunoglobulins are associated with disease severity and mortality in patients with COVID-19.
Postgrad Med J
; 98(1164): 765-771, 2022 Oct 01.
Article
in English
| MEDLINE | ID: mdl-37062997
15.
Evaluation of immunological abnormalities in patients with rare syndromes.
Cent Eur J Immunol
; 47(4): 299-307, 2022.
Article
in English
| MEDLINE | ID: mdl-36817395
16.
An association between immune status and chest CT scores in COVID-19 patients.
Int J Clin Pract
; 75(11): e14767, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34478612
17.
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.
J Allergy Clin Immunol
; 145(1): 391-401.e8, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31629014
18.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol
; 145(5): 1452-1463, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31887391
19.
Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.
Am J Pathol
; 189(12): 2440-2449, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31541646
20.
Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.
Blood
; 131(21): 2335-2344, 2018 05 24.
Article
in English
| MEDLINE | ID: mdl-29653965