Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant
(AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole…

ISG15 is an interferon (IFN)-α/β–inducible, ubiquitin-like intracellular protein. Its conjugation
to various proteins (ISGylation) contributes to antiviral immunity in mice. Here, we describe …

Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy
of infancy that combines pharmacoresistant seizures with developmental delay 1 . We …

We report the clinical description and molecular dissection of a new fatal human inherited
disorder characterized by chronic autoinflammation, invasive bacterial infections and muscular …

In the course of primary infection with herpes simplex virus 1 (HSV-1), children with inborn
errors of toll-like receptor 3 (TLR3) immunity are prone to HSV-1 encephalitis (HSE) 1 , 2 , 3 . …

Classic Kaposi sarcoma (KS) is exceedingly rare in children from the Mediterranean Basin,
despite the high prevalence of human herpesvirus-8 (HHV-8) infection in this region. We …

Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways, including
homologous recombination. Here, we report a de novo heterozygous T131P mutation in …

Childhood herpes simplex virus-1 (HSV-1) encephalitis (HSE) may result from single-gene
inborn errors of TLR3 immunity. TLR3-dependent induction of IFN-α/β or IFN-λ is crucial for …

Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group
and are both characterized by severe short stature, short extremities, and stiff joints. Although …

Germline mutations in FASL and FAS impair Fas-dependent apoptosis and cause recessively
or dominantly inherited autoimmune lymphoproliferative syndrome (ALPS). Patients with …