Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

It was first demonstrated in the late nineteenth century that human deaths from fever were
typically due to infections. As the germ theory gained ground, it replaced the old, unproven …

Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease
caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since …

We identified 18 patients with the distinct clinical phenotype of susceptibility to disseminated
nontuberculous mycobacterial infections, viral infections, especially with human …

Background Interferon γ receptor 1 (IFNγ R1) deficiency is a primary immunodeficiency with
allelic dominant and recessive mutations characterised clinically by severe infections with …

Interferon (IFN) was originally identified as a substance 'interfering'with viral replication in
vitro. The first IFNs to be identified were classified as type I IFNs (IFN‐α/β and related …

Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of
the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology …

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 …

Kaposi sarcoma associated herpesvirus (KSHV), a γ2-herpesvirus, also known as human
herpesvirus-8, is the etiologic agent of three virally associated tumors: Kaposi sarcoma, a …

Primary immunodeficiencies (PIDs) were long thought to be exclusively recessive traits—
autosomal recessive (AR) in most cases, with a few X-linked recessive (XR) diseases. In …