| First Author | Sun G | Year | 2022 |
| Journal | J Clin Immunol | Volume | 42 |
| Issue | 4 | Pages | 798-810 |
| PubMed ID | 35266071 | Mgi Jnum | J:328935 |
| Mgi Id | MGI:7341386 | Doi | 10.1007/s10875-022-01243-3 |
| Citation | Sun G, et al. (2022) Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human. J Clin Immunol 42(4):798-810 |
| abstractText | Monogenic autoinflammatory diseases (mAIDs) are a heterogeneous group of diseases affecting primarily innate immunity, with various genetic causes. Genetic diagnosis of mAIDs can assist in the patient's management and therapy. However, a large number of sporadic and familial cases remain genetically uncharacterized. Deficiency in ELF4, X-linked (DEX) is recently identified as a novel mAID. Here, we described a pediatric patient suffering from recurrent viral and bacterial respiratory infection, refractory oral ulcer, constipation, and arthritis. Whole-exome sequencing found a hemizygous variant in ELF4 (chrX:129205133 A > G, c.691 T > C, p.W231R). Using cells from patient and point mutation mice, we showed mutant cells failed to restrict viral replication effectively and produced more pro-inflammatory cytokines. RNA-seq identified several potential critical antiviral and anti-inflammation genes with decreased expression, and ChIP-qPCR assay suggested mutant ELF4 failed to bind to the promoters of these genes. Thus, we presented the second report of DEX. |
