Article
Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.
Scandinavian journal of immunology - 1 Feb 2026
Kökcü Karadağ Şefika İlknur, Topçak Aslı Berivan, Türkmenoğlu Yelda, Ertürk Biray, Çalışkan Nilay, Bologur Hamit, Yıldırım Güler, Güngör Hilal, Şahin Merve Karaca, Erbay Muhammed Fatih, Özçeker Deniz
Abstract excerpt
Cardiofaciocutaneous syndrome (CFCS) is a RASopathy involving craniofacial, cardiac, cutaneous, and neurologic features. MAP2K1 mutations, particularly in the kinase domain, are linked to CFCS type 3. Immune dysfunction has not previously been reported with the p.Tyr130His variant. To describe the case of combined immunodeficiency (CID) associated with the MAP2K1 p.Tyr130His variant. A 4-month-old female with...
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