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1.
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
J Clin Immunol
; 42(6): 1171-1192, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503492
2.
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
J Clin Immunol
; 42(8): 1748-1765, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35947323
3.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
J Clin Invest
; 134(2)2024 Jan 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-37943617
4.
Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.
Front Immunol
; 12: 747738, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34987501
5.
Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
Front Immunol
; 12: 644687, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33959125
6.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Front Immunol
; 11: 900, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655540
7.
Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.
Front Immunol
; 9: 2984, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30619340
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