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Supplementary material The Supplementary Material for this article can be found online at: Glossary ADCA-DN autosomal dominant cerebellar ataxia, deafness, and narcolepsy AIHA autoimmune hemolytic anemia ALPS autoimmune lymphoproliferative syndrome ASH1L absent, small, or homeotic 1-like BCS brittle cornea syndrome CD cluster of differentiation CID combined immunodeficiency disorder CLP common lymphoid progenitor CMP common myeloid progenitor COMPASS complex of proteins associated with Set1 CP chromatinopathy CREBBP cAMP response element-binding protein CVID common variable immunodeficiency disorder DN double negative DNA deoxyribonucleic acid DNMT DNA methyltransferase DP double positive DYT28 dystonia 28 EHMT euchromatic histone methyltransferase EP300 E1A-associated protein p300 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit FOXP3 forkhead box p3 GLILD granulomatous and lymphocytic interstitial lung disease H histone HLH hemophagocytic lymphohistiocytosis HSAIN1E hereditary sensory and autonomic neuropathy 1E HSC hematopoietic stem cells HSP Henoch-Schnlein purpura ICF immunodeficiency, centromeric region instability, facial anomalies Ig immunoglobulin ITP immune thrombocytopenic purpura K lysine KAT histone acetyltransferase KMT histone methyltransferase MDEM mendelian disorder of the epigenetic machinery me methylation mNDD monogenetic neurodevelopmental disorder MRAD intellectual disability autosomal dominant NF-kB nuclear factor kappa-light-chain-enhancer NK natural killer NSD nuclear receptor-binding SET domain protein ODLURO ODonnell-Luria-Rodan syndrome OM otitis media PID primary immunodeficiency PNA pneumonia PRDI-BF1 positive regulatory domain I-binding factor 1 PRDM PRDI-BF1 and RIZ domain-containing protein PRISMA preferred reporting items for systematic reviews and meta-analysis RIZ retinoblastoma protein-interacting zinc finger gene 1 RNA ribonucleic acid RTI respiratory tract infection SBBYS Say-Barber/Biesecker/Young-Simpson syndrome SCID severe combined immunodeficiency disorder SET suppressor of variegation, enhancer of zeste, trithorax SETD SET domain-containing protein SMYD2 SET and myeloid-nervy-DEAF1 domain containing 2 SP single positive Th helper T TREC T receptor excision circle Treg regulatory T UTI urinary tract infection VDJ variable-diversity-joining