Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …

Heterozygosity for human signal transducer and activator of transcription 3 (STAT3)
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper–immunoglobulin …

Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40 phox subunit
of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 …

Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is typically sporadic. Inborn errors of
TLR3- and DBR1-mediated central nervous system cell-intrinsic immunity can account for …

10.7554/eLife.32340.001 Most humans are exposed to Tropheryma whipplei (Tw). Whipple’s
disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), …

Coffee species such as Coffea canephora P. (Robusta) and C. arabica L. (Arabica) are
important cash crops in tropical regions around the world. C. arabica is an allotetraploid (2n = 4x …

Purpose Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary
immunodeficiency predisposing congenitally affected individuals to diseases caused by weakly …

Despite the astonishing progress in treating chronic hepatitis C virus (HCV) infection with
direct-acting antiviral agents, liver fibrosis remains a major health concern in HCV infected …

Chromosome 7 germline macrodeletions have been implicated in human congenital
malformations and developmental delays. We herein report a novel heterozygous macrodeletion of …

Context Primary intestinal T-cell lymphomas (ITCLs) are a group of rare and aggressive
extranodal lymphomas for which there is a limited range of treatments available. The presence …