Case Report: Common variable immunodeficiency phenotype and granulomatous-lymphocytic interstitial lung disease with a novel SOCS1 variant
Common variable immunodeficiency is a heterogeneous symptomatic group of inborn errors of immunity that mainly affects antibodies production and/or function, predisposing patients to recurrent and severe infections. More than half of them usually develop autoimmunity, lymphoproliferation, enteropath...
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| Format: | Book |
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Frontiers Media S.A.,
2024-06-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_adf874ff1f5b4e4e9d2cf7c7f198a605 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a María Soledad Caldirola |e author |
| 700 | 1 | 0 | |a María Soledad Caldirola |e author |
| 700 | 1 | 0 | |a Espantoso Daiana |e author |
| 700 | 1 | 0 | |a Andrea Cecilia Gomez Raccio |e author |
| 700 | 1 | 0 | |a Ana Luz García |e author |
| 700 | 1 | 0 | |a Agustin Bernacchia |e author |
| 700 | 1 | 0 | |a Martín Medín |e author |
| 700 | 1 | 0 | |a Maria Isabel Gaillard |e author |
| 700 | 1 | 0 | |a Daniela Di Giovanni |e author |
| 245 | 0 | 0 | |a Case Report: Common variable immunodeficiency phenotype and granulomatous-lymphocytic interstitial lung disease with a novel SOCS1 variant |
| 260 | |b Frontiers Media S.A., |c 2024-06-01T00:00:00Z. | ||
| 500 | |a 2296-2360 | ||
| 500 | |a 10.3389/fped.2024.1423858 | ||
| 520 | |a Common variable immunodeficiency is a heterogeneous symptomatic group of inborn errors of immunity that mainly affects antibodies production and/or function, predisposing patients to recurrent and severe infections. More than half of them usually develop autoimmunity, lymphoproliferation, enteropathy, and malignancies. Among these conditions, chronic lung disease such as granulomatous-lymphocytic interstitial lung disease is one of the leading causes of death in these patients. Recently, many genes that play a key role in B and T cells' development, maintenance, and/or cytokines signaling pathways have been implicated in the pathogenesis of the disease. Here, we describe the first Argentinian patient presenting with common variable immunodeficiency and granulomatous-lymphocytic interstitial lung disease, harboring two in cis heterozygous variants in the SOCS1 gene. | ||
| 546 | |a EN | ||
| 690 | |a common variable immunodeficiency | ||
| 690 | |a granulomatous-lymphocytic interstitial lung disease | ||
| 690 | |a SOCS1 | ||
| 690 | |a GLILD | ||
| 690 | |a inborn errors of immunity | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Frontiers in Pediatrics, Vol 12 (2024) | |
| 787 | 0 | |n https://www.frontiersin.org/articles/10.3389/fped.2024.1423858/full | |
| 787 | 0 | |n https://doaj.org/toc/2296-2360 | |
| 856 | 4 | 1 | |u https://doaj.org/article/adf874ff1f5b4e4e9d2cf7c7f198a605 |z Connect to this object online. |