Supplementary Table 1.

Variants Identified by WES

Inheritance mode	Gene	Variant	Nucleotide change	Aminoacid change	Allele origin	Polyphen score	Sift score	Mutation Tester score	CADD score
Autosomal recessive	ZNF721	rs781885961	c.619A>G	p.N207D	Mother	0.84	0.39	T	9.1
		rs781941891	c.485A>G	p.E162G	Father	0.9	0	T	23
	TNFRSF10A	-	c.239G>T	p.R80L	Mother	0.07	0.62	T	0
		-	c.629+5G>C	splicing	Father	-	-	-	5.8
	SPTBN5	-	c.7327C>T	p.H2443Y	Mother	0.73	0.94	T	8.5
		rs377709735	c.8377C>T	p.R2793W	Father	0.95	0.02	T	27.5
	ANKRD11	rs368831797	c.6194T>C	p.F2065S	Mother	0.7	0	DC	27.4
		rs770511968	c.5230C>G	p.H1744D	Father	0.89	0.32	DC	19.7
	MUC16	rs765644259	c.14387C>G	p.T4796R	Mother	-	-1	T	0
		rs201767175	c.42181C>A	p.P14061T	Father	0.99	-1	T	19
De novo	CAPN15/SOLH	rs780136051	c.2624C>T	p.A875V	-	0.97	0.09	DC	24
	STAT3	-	c.1201A>G	p.N401D	-	0.43	0	DC	29.7

NOTE. ANKRD11: not expressed in gut nor in immune cells (nasopharynx). CAPN15 or SOLH: homolog to Drosophila small optic lobes (sol) gene: expressed in spleen, brain, lung and kidney, function poorly described. Bold text concerns the gene of interest.

DC, Disease Causing; T, Tolerated.