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1.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Nat Immunol
; 23(8): 1256-1272, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35902638
2.
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(2): 42, 2024 Jan 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38231436
3.
Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance.
Immunity
; 43(5): 884-95, 2015 Nov 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-26546282
4.
Functionally impaired antibody response to BNT162b2 booster vaccination in CVID IgG responders.
J Allergy Clin Immunol
; 151(4): 922-925, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36463978
5.
Subcutaneous Immunoglobulin 16.5% (Cutaquig®) in Primary Immunodeficiency Disease: Safety, Tolerability, Efficacy, and Patient Experience with Enhanced Infusion Regimens.
J Clin Immunol
; 43(6): 1414-1425, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37160610
6.
Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees.
J Allergy Clin Immunol
; 149(5): 1525-1560, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35176351
7.
Can we identify WHIM in infancy? Opportunities with the public newborn screening process.
Am J Med Genet C Semin Med Genet
; 190(2): 215-221, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36210583
8.
Lymphoma in Partial DiGeorge Syndrome: Report of 2 Cases.
J Pediatr Hematol Oncol
; 44(3): e819-e822, 2022 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34966099
9.
Lineage Reconstruction of In Vitro Identified Antigen-Specific Autoreactive B Cells from Adaptive Immune Receptor Repertoires.
Int J Mol Sci
; 24(1)2022 Dec 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-36613668
10.
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.
J Clin Immunol
; 41(2): 294-302, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33411155
11.
TREC Screening for WHIM Syndrome.
J Clin Immunol
; 41(3): 621-628, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33415666
12.
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
J Allergy Clin Immunol
; 145(1): 46-69, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31568798
13.
B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.
Blood
; 131(26): 2967-2977, 2018 06 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-29728406
14.
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
J Allergy Clin Immunol
; 143(2): 726-735, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29772310
15.
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
J Allergy Clin Immunol
; 143(1): 173-181.e10, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30248356
16.
Predicting the Occurrence of Variants in RAG1 and RAG2.
J Clin Immunol
; 39(7): 688-701, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31388879
17.
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(3): 72, 2024 Feb 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38421526
18.
Autoimmunity as a continuum in primary immunodeficiency.
Curr Opin Pediatr
; 31(6): 851-862, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31693597
19.
Live vaccines after pediatric solid organ transplant: Proceedings of a consensus meeting, 2018.
Pediatr Transplant
; 23(7): e13571, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31497926
20.
Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeficiency.
Eur J Immunol
; 47(11): 1959-1969, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28718914