Comprehensive literature review of monkeypox
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 …
concern in the last few months. MPX is a zoonosis caused by the MPX virus (MPXV), which …
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
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 …
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
Mendelian susceptibility to mycobacterial disease: recent discoveries
J Bustamante - Human genetics, 2020 - Springer
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 …
γ immunity. Affected patients are highly and selectively susceptible to weakly virulent …
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
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) …
with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES) …
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
S Okada, T Asano, K Moriya, S Boisson-Dupuis… - Journal of clinical …, 2020 - Springer
Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic
CJA Duncan, MK Skouboe, S Howarth… - Journal of Experimental …, 2022 - rupress.org
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 exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five …
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal
dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here …
dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here …
JAKs and STATs from a clinical perspective: loss-of-function mutations, gain-of-function mutations, and their multidimensional consequences
N Ott, L Faletti, M Heeg, V Andreani… - Journal of clinical …, 2023 - Springer
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 …
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …
Host susceptibility to non-tuberculous mycobacterial infections
UI Wu, SM Holland - The Lancet infectious diseases, 2015 - thelancet.com
Non-tuberculous mycobacteria cause a broad range of clinical disorders, from cutaneous
infections, such as cervical or intrathoracic lymphadenitis in children, to disseminated …
infections, such as cervical or intrathoracic lymphadenitis in children, to disseminated …