Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) Associated with KMT2D Gene Mutation in Kabuki Syndrome

Adams, Juan; Gallagher, Joel L.; Hintermeyer, Mary; Verbsky, James; Routes, John M.

doi:10.1016/j.jaci.2015.12.512

Cited by 2 publications

(1 citation statement)

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“…In selected cases, particularly, but not restricted to, pediatric presentations, genetic testing may be warranted. For example, patients with mutations in CTLA4, LRBA, TACI, KMT2D, XIAP, RAG1, and NFKB1 have been found within so called "CVID" cohorts, and ILD is a common feature of other monogenic PIDs (34,39,(51)(52)(53)(54)(55)(56)(57). A molecular diagnosis enables other therapeutic approaches such as CTLA-4 fusion proteins abatacept and belatacept for the inflammatory associations of CTLA-4 and LRBA deficiency (58,59).…”

Section: Investigations For Cvid-related Ildmentioning

confidence: 99%

Histology of Interstitial Lung Disease in Common Variable Immune Deficiency

et al. 2020

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Interstitial lung disease (ILD) is an important non-infectious complication in several primary immune deficiencies. In common variable immune deficiency (CVID) it is associated with complex clinical phenotypes and adverse outcomes. The histology of ILD in CVID is heterogeneous and mixed patterns are frequently observed within a single biopsy, including non-necrotising granulomatous inflammation, lymphoid interstitial pneumonitis, lymphoid hyperplasia, follicular bronchiolitis, organizing pneumonia, and interstitial fibrosis; ILD has to be differentiated from lymphoma. The term granulomatous-lymphocytic interstitial lung disease (GLILD), coined to describe the histopathological findings within the lungs of patients with CVID with or without multisystem granulomata, is somewhat controversial as pulmonary granulomata are not always present on histology and the nature of infiltrating lymphocytes is variable. In this mini review we summarize the literature on the histology of CVID-related ILD and discuss some of the factors that may contribute to the inter- and intra- patient variability in the histological patterns reported. Finally, we highlight areas for future development. In particular, there is a need for standardization of histological assessments and reporting, together with a better understanding of the immunopathogenesis of CVID-related ILD to resolve the apparent heterogeneity of ILD in this setting and guide the selection of rational targeted therapies in different patients.

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Section: Investigations For Cvid-related Ildmentioning

confidence: 99%

Histology of Interstitial Lung Disease in Common Variable Immune Deficiency

et al. 2020

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Whole exome sequencing in patients with childhood‐onset systemic lupus erythematosus: Results from a Croatian national study

Sestan,

Arsov,

Kifer

et al. 2024

Scand J Immunol

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The purpose of this study was to identify new and low‐frequency gene variants using whole exome sequencing (WES) in patients with childhood‐onset systemic lupus erythematosus (cSLE), that may be involved in the pathogenesis of SLE. We performed WES on selected 17 trios (in some cases including other informative family members) in which the proband presented with severe, atypical clinical features, resistance to conventional therapy, a family pattern of occurrence and/or syndromic characteristics. After performing WES and analysis of gene variants, 17 novel and/or low‐frequency variants were identified in 7 patients. One variant was classified as pathogenic (KMT2D, NM_003482.3:c.8626delC, predicted to truncate the protein p.(Gln2876Serfs*34)) and two as likely pathogenic according to the American College of Medical Genetics and Genomics classification guidelines (ADAR, NM_001111.3:c.2815A>G, predicted to encode p.(Ile939Val); BLK, NM_001715.2:c.211G>A, predicted to encode p.(Ala71Thr)). The other variants remain of uncertain significance at this point of time. WES is an important diagnostic and research instrument, producing a growing list of likely genes and gene variants that may be of relevance in the pathogenesis of cSLE and potentially point to novel therapeutic targets.

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Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) Associated with KMT2D Gene Mutation in Kabuki Syndrome

Cited by 2 publications

References 0 publications

Histology of Interstitial Lung Disease in Common Variable Immune Deficiency

Histology of Interstitial Lung Disease in Common Variable Immune Deficiency

Whole exome sequencing in patients with childhood‐onset systemic lupus erythematosus: Results from a Croatian national study

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