According to the autosomal recessive models and clinical phenotypes of immunodeficiency disorders, compound heterozygous variants (c.5846T>C and c.3453C>T, NM_058004) detected by clinical exome sequencing were suspected to be disease-associated variants in the proband in the PI4KA gene, a known gene that can cause gastrointestinal defects and immunodeficiency syndrome 2 (OMIM: 619708) (Supplementary Table 2). This evidence concerns the gene PI4KA and immunodeficiency disease.