biostudies-literatureUnknown13Zhang KPhosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the <i>PI4KA</i> gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. <i>PI4KA</i> mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions (OMIM:619621, 616531, 619708). We detected sepsis, severe diarrhea, and decreased immunoglobulin levels in one neonate. Two novel compound heterozygous mutations, c.5846T>C (p.Leu1949Pro) and c.3453C>T (p.Gly1151=), were identified in the neonate from the father and the mother, respectively. Sanger sequencing and reverse transcription polymerase chain reaction (RT-PCR) for peripheral blood and minigene splicing assays showed a deletion of fivFrontiers in immunology987666https://www.ebi.ac.uk/biostudies/studies/S-EPMC9627211biostudies-literatureA synonymous mutation in <i>PI4KA</i> impacts the transcription and translation process of gene expression.PMC9627211Zhang KZhang HLv YWang DLiu QYu HChen DLiu YLi XGao MZhang XBai LPang HKang LGai ZfalseA synonymous mutation in <i>PI4KA</i> impacts the transcription and translation process of gene expression.Phosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the <i>PI4KA</i> gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. <i>PI4KA</i> mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions (OMIM:619621, 616531, 619708). We detected sepsis, severe diarrhea, and decreased immunoglobulin levels in one neonate. Two novel compound heterozygous mutations, c.5846T>C (p.Leu1949Pro) and c.3453C>T (p.Gly1151=), were identified in the neonate from the father and the mother, respectively. Sanger sequencing and reverse transcription polymerase chain reaction (RT-PCR) for peripheral blood and minigene splicing assays showed a deletion of fiv2022-01-01T00:00:00Z20222026-05-29T18:49:56.225Z2024-12-03T20:19:25.944ZS-EPMC96272113634135510.3389/fimmu.2022.987666