A case of wild‐type rubella‐associated cutaneous granuloma in ataxia telangiectasia

Browne, Rachel; Cliffe, Lucy; Ip, Winne; Brown, Kevin E.; McDermott, Elizabeth

doi:10.1111/pde.15032

Cited by 6 publications

(6 citation statements)

References 7 publications

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“…5 A case report of rubella granuloma (RG) due to wild type in AT illustrates the fact that it is not vaccine strain specific. 6 Skin RG can appear weeks to decades after infection or vaccination, typically before the age of two, and progresses slowly over years. 5,6,7 It is characterised by well-defined erythematous-squamous papular lesions with atrophic centres, usually localised to the trauma-prone area, which can cause significant morbidity with possible local tissue destruction.…”

Section: Discussionmentioning

confidence: 99%

Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia

Le Lay,

Deparis,

Fraitag

et al. 2024

Dermatol Reports

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Ataxia telangiectasia (AT) is a rare autosomal recessive primary immunodeficiency disorder (PID) resulting from a mutation in the ATM gene, which is involved in DNA repair. We describe the case of a young girl with cutaneous granulomas that developed after childhood vaccinations. Immunohistochemistry revealed granulomas induced by the rubella virus vaccine. This finding raises the question of live rubella vaccine strains safety in immunocompromised children.

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Section: Discussionmentioning

confidence: 99%

Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia

Le Lay,

Deparis,

Fraitag

et al. 2024

Dermatol Reports

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“…Recently, an association has been found between the administration of live rubella vaccines and the formation of cutaneous and visceral rubella-positive granulomatous in people with AT, as well as in other immunodeficiencies with impaired DNA repair [98,99].…”

Section: Clinical Picture and Managementmentioning

confidence: 99%

Ataxia Telangiectasia

Pietrucha¹

2024

Ataxia - Practice Essentials and Interventions

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Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, telangiectasias, immunodeficiency, recurrent sinopulmonary infections, cancer susceptibility, and radiation sensitivity. AT is a complex disorder, whose neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities: immunoglobulin and antibody deficiencies and lymphopenia. AT patients have an increased predisposition for cancers, particularly of lymphoid origin. AT is caused by mutations in the ataxia telangiectasia mutated (ATM) gene, and the role of the ATM protein is the coordination of cellular signaling pathways in response to DNA double-strand breaks, oxidative stress, and other genotoxic stresses. The diagnosis of AT is usually supported by the combination of neurological clinical features and specific laboratory abnormalities (immunoglobulin A (IgA) deficiency, lymphopenia, and increased alpha-fetoprotein (AFP) levels). There are several other neurological and rare disorders that physicians must consider when diagnosing AT. Treatment of neurological symptoms in patients with AT is only symptomatic and supportive, as there are no known treatments that can slow or stop neurodegeneration. However, other symptoms of AT, such as antibody deficiency, lung disease, developmental disorders, diabetes, or cancer, can be effectively treated. Some hope is associated with the treatment of dexamethasone in the patient’s own blood cells, which relieves neurological symptoms.

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“…Complications associated with live-viral vaccines for polio, measles, mumps, or varicella zoster have not been reported except for one vaccine-associated poliomyelitis case [ 25 ]. However, although causality is unclear, vaccine-strain rubella virus has been isolated in some cutaneous granulomas in patients with primary immunodeficiencies, specifically in DNA repair disorders, including AT [ 26 , 27 , 28 ].…”

Section: Ataxia-telangiectasiamentioning

confidence: 99%

Infections in DNA Repair Defects

Demirdağ

Gupta

2023

Pathogens

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DNA repair defects are heterogenous conditions characterized by a wide spectrum of clinical phenotypes. The common presentations of DNA repair defects include increased risk of cancer, accelerated aging, and defects in the development of various organs and systems. The immune system can be affected in a subset of these disorders leading to susceptibility to infections and autoimmunity. Infections in DNA repair defects may occur due to primary defects in T, B, or NK cells and other factors such as anatomic defects, neurologic disorders, or during chemotherapy. Consequently, the characteristics of the infections may vary from mild upper respiratory tract infections to severe, opportunistic, and even fatal infections with bacteria, viruses, or fungi. Here, infections in 15 rare and sporadic DNA repair defects that are associated with immunodeficiencies are discussed. Because of the rarity of some of these conditions, limited information is available regarding infectious complications.

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A case of wild‐type rubella‐associated cutaneous granuloma in ataxia telangiectasia

Cited by 6 publications

References 7 publications

Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia

Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia

Ataxia Telangiectasia

Infections in DNA Repair Defects

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