Dysregulated Lymphocyte Antigen Receptor Signaling in Common Variable Immunodeficiency with Granulomatous Lymphocytic Interstitial Lung Disease

Lui, Victor; Ghosh, Tusharkanti; Rymaszewski, Amy L.; Chen, Shaoying; Baxter, Ryan M.; Kong, Daniel S; Ghosh, Debashis; Routes, John M.; Verbsky, James; Hsieh, Elena W.Y.

doi:10.1007/s10875-023-01485-9

Cited by 4 publications

(4 citation statements)

References 69 publications

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“…Furthermore, prompt antibiotic treatment for each acute infectious episode and a personalized respiratory physiotherapy program and/or antibiotic prophylaxis regimen should be considered. (9,14). CVID-related ILD is presumed to be unrelated to bacterial infections, as it can be observed also in the absence of bronchiectasis, it is not signi�icantly associated with a history of pneumonia and frequently occurs in conjunction with lymphoid hyperplasia in other tissues, such as lymph nodes, spleen, and the mucosal lymphoid tissue of the gastrointestinal tract (17).…”

Section: Common Variable Immunode�iciencymentioning

confidence: 99%

“…CVID-related ILD is presumed to be unrelated to bacterial infections, as it can be observed also in the absence of bronchiectasis, it is not signi�icantly associated with a history of pneumonia and frequently occurs in conjunction with lymphoid hyperplasia in other tissues, such as lymph nodes, spleen, and the mucosal lymphoid tissue of the gastrointestinal tract (17). This phenotypic distinction also has important clinical implications because the risk of death due to lung complications is signi�icantly higher for patients with ILD as compared to those without (9,14,18).…”

Section: Common Variable Immunode�iciencymentioning

confidence: 99%

“…lymphoproliferation, splenomegaly, lymphoma, nodular hyperplasia, and granulomatous manifestations(9,14). These complications may occur simultaneously or sequentially over the disease course.…”

mentioning

confidence: 99%

“…These complications may occur simultaneously or sequentially over the disease course. They are thought to derive from dysregulated innate and adaptive cellular activation responses due to underlying pathogenetic mechanisms that affect the maintenance of tolerance(14,15,16). As a consequence, lung complications in this group are more severe than those of the �irst group and encompass, in addition to bronchiectasis, interstitial and parenchymal lung disease (ILD).These two distinct clinical phenotypes likely result from distinct genetic defects causing CVID, falling broadly into two categories: those that almost exclusively affect B cell development, differentiation, activation, and/or survival, such as genes encoding for the cluster of differentiation 19, 20, 21, or 27 (�irst group), and those that control/affect crosstalk between B and T cells (i.e mutations in LRBA, CTL-4, NFKB1, NFKB2, PIK3CD, STAT3), causing immune dysregulation ultimately leading to ILD (second group)…”

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confidence: 99%

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How primary immune deficiencies impact the lung in childrens

Plebani,

Bondioni

2024

Pediatr Respir J

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Primary immune de�iciencies (PID) encompasse a heterogeneous group of genetically determined disorders that affect development and/or function of innate or adaptive immunity. Consequently, patients with PID suffer from recurrent and/or severe infections that frequently involve the lung.Pulmonary complications, which are largely dependent on the components of the immune system that are defective, cause signi�icant morbidity and mortality. Even though the pattern of lung damage and the types of microorganisms involved may provide insights into potential defects in innate, humoral, or cell-mediated immunity, there is a substantial overlap in lung complications among the different types of PID. Consequently, thorough laboratory investigations are necessary to establish a de�initive diagnosis and to prompt appropriate treatment. Furthermore, the identi�ication of a large number of PID-causing genes allows early, even presymptomatic diagnosis, thus representing an essential tool for prevention of lung damage. This article describes the most common forms of PID, their cellular and molecular bases, and the associated lung abnormalities, and reports on available treatment.

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Section: Common Variable Immunode�iciencymentioning

confidence: 99%

Section: Common Variable Immunode�iciencymentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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How primary immune deficiencies impact the lung in childrens

Plebani,

Bondioni

2024

Pediatr Respir J

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Approach to diagnosing and managing granulomatous-lymphocytic interstitial lung disease

Galant-Swafford,

Catanzaro,

Achcar

et al. 2024

eClinicalMedicine

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Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine

Hsieh,

Bolze,

Hernandez

2024

Immunological Reviews

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The Yellow Brick Road leads Dorothy through Oz to the Emerald City-a luminescent green metropolis where she hopes to meet the great and powerful Wizard. The Emerald City is the destination of Dorothy's journey, where desires become reality. Arguably, the "Emerald City" for most physician-scientists caring for patients with inborn errors of immunity (IEI) is to apply effective therapies that target the specific impaired cell type/pathway, while avoiding detrimental effects on the rest of the immune system and other tissues (Figure 1). That is, to use the right treatment, at the right time, for the right patient-precision medicine at its best. The journey to this Emerald City has always started with the patient's symptoms and history. However, the constellation of these clinical clues has significantly changed over time, making it more challenging to begin the odyssey down the yellow brick road. In 1952, Dr. Ogden Bruton started his journey with patients who had recurrent pneumonias.Along the road, he found that they lacked serum γ-globulins. He then discovered a causative single gene defect, inherited as a Mendelian trait with full penetrance. Finally, he arrived at the targeted destination of immunoglobulin replacement therapy. 1 Today, neither the starting point nor the road that follows are as straight and smooth.

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Dysregulated Lymphocyte Antigen Receptor Signaling in Common Variable Immunodeficiency with Granulomatous Lymphocytic Interstitial Lung Disease

Cited by 4 publications

References 69 publications

How primary immune deficiencies impact the lung in childrens

How primary immune deficiencies impact the lung in childrens

Approach to diagnosing and managing granulomatous-lymphocytic interstitial lung disease

Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine

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