Case report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED

Boyarchuk, Oksana; Dyvonyak, Olha; Hariyan, Tetyana; Volokha, Alla

doi:10.3389/fped.2023.1086867

Cited by 2 publications

(2 citation statements)

References 28 publications

(57 reference statements)

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“…In a previous study, 12 patients from 11 unrelated families have been identified with homozygous or compound heterozygous variants in AIRE and observed with autoimmune retinopathy ( 10 , 35 – 40 ). In total, 11 of the 12 patients initially had systemic symptoms, including autoimmune hepatitis, mucocutaneous candidiasis, hypoparathyroidism, or adrenal insufficiency, followed by vision loss or nyctalopia.…”

Section: Resultsmentioning

confidence: 99%

“…The initial symptoms of APS1 are usually infection in childhood, followed by hypoparathyroidism by age 10 and adrenal insufficiency by age 15 ( 51 – 53 ). Keratoconjunctivitis has been long-established as associated with APS1 when the eye is involved ( 54 ), while a limited number of patients with APS1 have been found to present with autoimmune retinopathy ( 10 , 35 – 40 ). A total of 12 reported patients in the literature exhibited with consistent retinal changes resembling retinitis pigmentosa, which showed a pale optic disc, attenuated retinal arterioles, and bone-spicule pigment changes in the periphery with retinal atrophic changes ( 36 ).…”

Section: Discussionmentioning

confidence: 99%

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Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic

Wang,

Jiang,

Wang

et al. 2023

Front. Immunol.

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IntroductionRetinal degenerative or inflammatory changes may occur with hereditary immunological disorders (HID) due to variants in approximately 20 genes. This study aimed to investigate if such retinopathy may present as an initial sign of immunological disorders in eye clinic.MethodsThe variants in the 20 genes were selected from in-house exome sequencing data from 10,530 individuals with different eye conditions. Potential pathogenic variants were assessed by multistep bioinformatic analysis. Pathogenic variants were defined according to the ACMG/AMP criteria and confirmed by Sanger sequencing, co-segregation analysis, and consistency with related phenotypes. Ocular clinical data were thoroughly reviewed, especially fundus changes.ResultsA total of seven pathogenic variants in four of the 20 genes were detected in six probands from six families, including three with hemizygous nonsense variants p.(Q308*), p.(Q416*), and p.(R550*) in MSN, one with homozygous nonsense variants p.(R257*) in AIRE, one with compound heterozygous nonsense variants p.(R176*) and p.(T902*) in LAMB2, and one with a known c.1222T>C (p.W408R) heterozygous variant in CBL. Ocular presentation, as the initial signs of the diseases, was mainly retinopathy mimicking other forms of hereditary retinal degeneration, including exudative vitreoretinopathy in the three patients with MSN variants or tapetoretinal degeneration in the other three patients. Neither extraocular symptoms nor extraocular manifestations were recorded at the time of visit to our eye clinic. However, of the 19 families in the literature with retinopathy caused by variants in these four genes, only one family with an AIRE homozygous variant had retinopathy as an initial symptom, while the other 18 families had systemic abnormalities that preceded retinopathy.DiscussionThis study, for the first time, identified six unrelated patients with retinopathy as their initial and only presenting sign of HID, contrary to the previous reports where retinopathy was the accompanying sign of systemic HID. Recognizing such phenotype of HID may facilitate the clinical care of these patients. Follow-up visits to such patients and additional studies are expected to validate and confirm our findings.

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Section: Resultsmentioning

confidence: 99%