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Article

Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.

Journal of clinical immunology - 30 Sept 2024

Peek Christopher T, Silva-Carmona Manuel, Bertuch Alison A, Nicholas Sarah K, Vogel Tiphanie P

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39348076
DOI: 10.1007/s10875-024-01808-4

Genes

SAMD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.PMID 39348076Read ↗

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A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family.Semantic proximity Read ↗

Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.Semantic proximity Read ↗

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.Semantic proximity Read ↗

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.Semantic proximity Read ↗

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis.Semantic proximity Read ↗

Genetic and clinical spectrum of SAMD9 and SAMD9L syndromes: from variant interpretation to patient managementSemantic proximity Read ↗

Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo DisorderSemantic proximity Read ↗

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