Uveitis and Common Variable Immunodeficiency: Data from the DEF-I Study And Literature Review

Pasquet, F.; Kodjikian, Laurent; Mura, F.; Rivière, Sophie; Harroche, Julien; Blanc, A. P.; Chaix, Fabrice; Oksenhendler, Éric; Sève, P.

doi:10.3109/09273948.2012.674612

Cited by 14 publications

(8 citation statements)

References 24 publications

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“…A large population-based study in the Savoy area of France identified uveitis in four of 252 patients known to have CVID. 6 Most reported cases have had granulomatous features, including conjunctival granulomas, choroidal granulomas, and multifocal choroiditis. 7 Such granulomas are believed to develop as a result of CVID-associated immune dysregulation.…”

Section: Discussionmentioning

confidence: 99%

Submacular choroiditis in common variable immunodeficiency associated with a pathogenic mutation in the tumor necrosis factor gene

Peng

Chen

Ahmed

et al. 2020

American Journal of Ophthalmology Case Reports

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Purpose To report on a case of submacular choroiditis in a patient with common variable immunodeficiency (CVID). Observations An 80-year-old man was referred with a diagnosis of a central retinal vein occlusion with CME and later developed intraocular inflammation. History was notable for recurrent bacterial infections and myelodysplastic syndrome known to be due to CVID. Ophthalmic examination and multimodal imaging revealed mild intraocular inflammation, retinal vasculitis, submacular choroiditis, and CME. Genetic testing identified a point mutation in TNFRSF13B, a pathogenic variant in the tumor necrosis factor gene known to be associated with CVID, but not with CVID-associated uveitis. Conclusions and importance The diagnosis of CVID should be considered in patients with uveitis and a history of recurrent bacterial infections. Genetic testing can support the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Submacular choroiditis in common variable immunodeficiency associated with a pathogenic mutation in the tumor necrosis factor gene

Peng

Chen

Ahmed

et al. 2020

American Journal of Ophthalmology Case Reports

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“…Cases of corneal disease in patients with CVID are limited in the literature. These studies suggest that keratitis in CVID may manifest as infectious and/or inflammatory in nature [ 3 , 4 ]. Bilateral consecutive sterile corneal thinning that progressed to perforations was reported in a patient with CVID by Akpek et al [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Reports of other ocular manifestations in CVID are also limited and include retinal vasculitis [ 4 ], uveitis [ 4 ], keratoconjunctivitis [ 5 , 6 ], and episodic retinal vein occlusions [ 7 ]. In several of these cases, initiation of treatment of IVIG and/or steroids led to the resolution of uveitis or granulomatous lesions [ 4 , 5 ] and recurrent keratoconjunctivitis [ 5 ]. Patients that have CVID may require lifelong immunoglobulin replacement to prevent further ocular and systemic manifestations of disease.…”

Section: Discussionmentioning

confidence: 99%

Bacterial corneal ulcer associated with common variable immune deficiency

Tsui

Deng

Siedlecki

et al. 2016

J Ophthal Inflamm Infect

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Common variable immune deficiency (CVID) is one of the most commonly diagnosed primary immunodeficiencies. Generally, patients have a history of recurrent sinopulmonary infections, hypogammaglobulinemia of two or more immunoglobulin isotypes, and impaired functional antibody responses. Reports of corneal involvement associated with CVID are limited. We describe a case of corneal ulceration associated with methicillin-resistant Staphylococcus aureus in a patient with CVID that developed while on monthly intravenous immunoglobulin infusions and in which there were no common risk factors for bacterial keratitis, such as prior history of ocular surface disease, trichiasis, trauma, or contact lens wear.

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“…There are several reports of ocular manifestations of granulomatous CVID, including granulomatous uveitis [18,19,20,21]. Autoimmune and non-granulomatous chronic inflammatory complications of CVID include uveitis, diffuse placoid chorioretinopathy, bird-shot chorioretinopathy, bilateral corneal ulcerations and orbital inflammations [22,23,24,25,26,27,28,29,30]. Starr et al [31 ]noted an unusual pattern of retinitis pigmentosa and CVID in one family.…”

Section: Discussionmentioning

confidence: 99%

Metachronous Diffuse Large B-Cell Lymphoma and Kaposi Sarcoma of the Right Eyelid and Lacrimal Gland in a Patient with Granulomatous Common Variable Immunodeficiency

et al. 2016

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Purpose: To describe the ophthalmic and histopathological features of a female with granulomatous common variable immunodeficiency (CVID) who presented with upper-lid swelling. Procedures: The patient underwent a biopsy of the right upper lid/palpebral lacrimal gland with imaging showing a left-sided nasopharyngeal mass, multiple lymph nodes within the mediastinum, bilateral lung nodules and a peritoneal nodule in the right iliac fossa. The right upper-lid swelling progressed and was subject to a second biopsy. Results: The first right upper-lid biopsy revealed a diffuse large B-cell lymphoma (DLBCL), confirmed with clonal IgH gene rearrangement with PCR. The nasopharyngeal mass and lymph nodes were suspected clinically to be DLBCL. However, a biopsy of the nasopharyngeal mass showed Kaposi sarcoma (KS). The second biopsy of the right upper lid/palpebral lacrimal gland revealed KS with no evidence of DLBCL. Conclusion: This is the first documentation of periocular/orbital metachronous DLBCL and KS in a patient with granulomatous CVID. We discuss the role of fluctuating immunity in CVID to explain the spontaneous regression of the DLBCL and the varying clinical picture.

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Uveitis and Common Variable Immunodeficiency: Data from the DEF-I Study And Literature Review

Abstract: CVID can be associated with uveitis. Since uveitis can reveal the immunodeficiency, CVID diagnosis should be considered at the time of uveitis diagnosis.

Cited by 14 publications

References 24 publications

Submacular choroiditis in common variable immunodeficiency associated with a pathogenic mutation in the tumor necrosis factor gene

Submacular choroiditis in common variable immunodeficiency associated with a pathogenic mutation in the tumor necrosis factor gene

Bacterial corneal ulcer associated with common variable immune deficiency

Metachronous Diffuse Large B-Cell Lymphoma and Kaposi Sarcoma of the Right Eyelid and Lacrimal Gland in a Patient with Granulomatous Common Variable Immunodeficiency

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