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[DOI] [PMC free article] [PubMed] [Google Scholar] de Simone A, Hubbard R, de la Torre NV, Velappan Y, Wilson M, Considine MJ, Soppe WJJ, Foyer CH

The psychosocial costs such as social, educational and career related activities not pursued, as well as the emotional distress, depression, social isolation, and diminished QoL have not been measured, but are almost certainly substantial

It suggests that the disease pathogenesis is not directly linked to certain phyla, and thus, patients could not be diagnosed exclusively based on the microbiota profile

The most frequently described immunodeficiency was common variable immunodeficiency disorder (CVID, n=110/715, 15.4%), reported in most ICF syndrome type 1 (n=56/58, 97%) and Kabuki syndrome type 1 (n=40/197, 20%) (143, 145, 146, 153, 157, 159, 160), Rubinstein-Taybi syndrome type 1 (n=2/6, 25%) (116, 119) and type 2 (n=4/26, 15%) (126128), Wiedemann-Steiner syndrome (n=3/60, 5%) (60) and single cases of SETD1A-syndrome (n=1/16, 6%) (102), MRAD 32 syndrome (n=1/83, 1%) (133, 137), HSAIN1E/ADCA-DN syndrome (n=1/1, 100%) (137) and MRAD 51 syndrome (n=1/7, 14.3%) (89)