Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features

Patients with Roifman-Chitayat syndrome suffer repeated infections due to combined immunodeficiency and display a wide array of syndromic features encompassing developmental delay, optic nerve atrophy and skeletal anomalies. We show here for the first time that complete SKAP and PI3K p110δ deficiencies lead to this complex syndrome.

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