Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

J Bustamante, S Boisson-Dupuis, L Abel… - Seminars in …, 2014 - Elsevier
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

[HTML][HTML] Coccidioidomycosis: a contemporary review

NF Crum - Infectious diseases and therapy, 2022 - Springer
Coccidioidomycosis, colloquially known as Valley Fever, is an invasive dimorphic fungal
infection caused by Coccidioides immitis and C. posadasii. The fungi are found in the arid …

2016 Infectious Diseases Society of America (IDSA) clinical practice guideline for the treatment of coccidioidomycosis

JN Galgiani, NM Ampel, JE Blair… - Clinical Infectious …, 2016 - academic.oup.com
It is important to realize that guidelines cannot always account for individual variation among
patients. They are not intended to supplant physician judgment with respect to particular …

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

J Toubiana, S Okada, J Hiller… - Blood, The Journal …, 2016 - ashpublications.org
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …

[HTML][HTML] 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 …

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 …

[HTML][HTML] Candida albicans morphology and dendritic cell subsets determine T helper cell differentiation

SW Kashem, BZ Igyártó, M Gerami-Nejad, Y Kumamoto… - Immunity, 2015 - cell.com
Candida albicans is a dimorphic fungus responsible for chronic mucocutaneous and
systemic infections. Mucocutaneous immunity to C. albicans requires T helper 17 (Th17) cell …

[HTML][HTML] An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

B Boisson, C Wang, V Pedergnana, L Wu, S Cypowyj… - Immunity, 2013 - cell.com
Patients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chronic
mucocutaneous candidiasis (CMC). We report a biallelic missense mutation (T536I) in the …

Recent advances in our understanding of the environmental, epidemiological, immunological, and clinical dimensions of coccidioidomycosis

C Nguyen, BM Barker, S Hoover, DE Nix… - Clinical microbiology …, 2013 - Am Soc Microbiol
Coccidioidomycosis is the endemic mycosis caused by the fungal pathogens Coccidioides
immitis and C. posadasii. This review is a summary of the recent advances that have been …

Primary immunodeficiencies underlying fungal infections

F Lanternier, S Cypowyj, C Picard… - Current opinion in …, 2013 - journals.lww.com
CMC, invasive candidiasis, invasive aspergillosis, deep dermatophytosis, pneumocystosis,
and endemic mycoses can all be caused by PIDs. Each type of infection is highly suggestive …