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. 2024 Jul 24;632(8024):390–400. doi: 10.1038/s41586-024-07745-x

Extended Data Fig. 1. Homozygous TMEFF1 variants in two unrelated children with HSE.

Extended Data Fig. 1

a, CoNeS analysis of negative selection for TMEFF1 plotted against the density distribution for genes underlying autosomal dominant (AD) inborn errors of immunity (IEI), autosomal recessive (AR) IEI, and AR/AD IEI. b, VirScan test for antibodies against a wide range of viruses and other pathogens in the serum of the two patients, 8 years (P1) and 10 years (P2) after the HSE episode, and in their parents. The numerical values in the heatmap represent the number of enriched non-overlapping peptides recognized by the antibodies in the serological sample. c, Viral serological test on the two patients, 8 years (P1) and 10 years (P2) after the HSE episode, and their relatives. Samples with values below the detection threshold are indicated as N (negative). d, Electropherogram showing the TMEFF1 gDNA sequences surrounding the mutations of interest, in a healthy control (Ctrl), P1, P2, and their parents. e, Alignment of TMEFF1 protein sequences around the P44 residue or the cytoplasmic tail, across species. Numbers in parentheses indicate the amino-acid position in each organism.