The current outbreak of monkeypox (MPX) infection has emerged as a global matter of
concern in the last few months. MPX is a zoonosis caused by the MPX virus (MPXV), which …

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

Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …

Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-
γ immunity. Affected patients are highly and selectively susceptible to weakly virulent …

Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1)
with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES) …

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

Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …

Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by
the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five …

The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …

Non-tuberculous mycobacteria cause a broad range of clinical disorders, from cutaneous
infections, such as cervical or intrathoracic lymphadenitis in children, to disseminated …