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Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2024

Zamani Raha, Zoghi Samaneh, Shahkarami Sepideh, Seyedpour Simin, Jimenez Heredia Raúl, Boztug Kaan, Rezaei Nima

Abstract excerpt

BACKGROUND: Inborn errors of immunity are a growing group of disorders with a wide spectrum of genotypic and phenotypic profiles. CARMIL2 (previously named RLTPR) deficiency is a recently described cause of immune dysregulation, mainly presenting with allergy, mucocutaneous infections, and inflammatory bowel disease. CARMIL2 deficiency is categorized under diseases of immune dysregulation with susceptibility to...

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PMID: 37855284
DOI: 10.2174/0118715303263327230922043929

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