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1.
Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.
Clin Exp Immunol
; 2023 Jul 28.
Artículo
Inglés
| MEDLINE | ID: mdl-37503744
2.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
J Allergy Clin Immunol
; 146(4): 901-911, 2020 10.
Artículo
Inglés
| MEDLINE | ID: mdl-32278790
3.
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Blood
; 132(1): 89-100, 2018 07 05.
Artículo
Inglés
| MEDLINE | ID: mdl-29632024
4.
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
J Exp Med
; 221(6)2024 Jun 03.
Artículo
Inglés
| MEDLINE | ID: mdl-38563820
5.
Autoimmune regulator (AIRE) contributes to Dectin-1-induced TNF-α production and complexes with caspase recruitment domain-containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1.
J Allergy Clin Immunol
; 129(2): 464-72, 472.e1-3, 2012 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-21962774
6.
The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17.
Am J Pathol
; 178(3): 983-8, 2011 Mar.
Artículo
Inglés
| MEDLINE | ID: mdl-21356351
7.
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
J Exp Med
; 221(6)2024 Jun 03.
Artículo
Inglés
| MEDLINE | ID: mdl-38709237
8.
Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.
Cell Rep
; 23(4): 1112-1123, 2018 04 24.
Artículo
Inglés
| MEDLINE | ID: mdl-29694889
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