Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies

Lovell, Jana; Foruraghi, Ladan; Freeman, Alexandra F.; Uzel, Gülbû; Zerbe, Christa S.; Su, Helen C.; Hsu, Amy P.; Holland, Steven M.

doi:10.1016/j.jaci.2016.02.040

Cited by 12 publications

(16 citation statements)

References 9 publications

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“…Since the discovery of its first genetic etiology in 1996, MSMD has been reported and a causal genetic lesion described in 501 individuals from 356 kindreds originating from 57 countries on five continents (Figure a). Over this period, the genetic dissection of MSMD in these patients has revealed this condition to be caused by inborn errors of interferon (IFN)‐γ immunity . These findings confirm that IFN‐γ, first described in 1965 as an antiviral IFN, is actually the macrophage‐activating factor, as shown in 1983 .…”

Section: Introductionsupporting

confidence: 61%

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

et al. 2018

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Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-c immunity. Since 1996, disease-causing mutations have been found in 11 genes, which, through allelic heterogeneity, underlie 21 different genetic disorders. We briefly review here progress in the study of molecular, cellular and clinical aspects of MSMD since the last comprehensive review published in 2014. Highlights include the discoveries of (1) a new genetic etiology, autosomal recessive signal peptide peptidase-like 2 A deficiency, (2) TYK2-deficient patients with a clinical phenotype of MSMD, (3) an allelic form of partial recessive IFN-cR2 deficiency, and (4) two forms of syndromic MSMD: RORc/RORcT and JAK1 deficiencies. These recent findings illustrate how genetic and immunological studies of MSMD can shed a unique light onto the mechanisms of protective immunity to mycobacteria in humans.

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Section: Introductionsupporting

confidence: 61%

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

et al. 2018

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“…PBMCs were isolated from healthy controls (Australian Red Cross) and PID patients with disease-causing mutations in STAT1 , STAT3 , IL10R , IL21R , IL21 , CD40LG , NEMO , ICOS , BTK , IL12RB1 , IFNGR1 , or TYK2 (Table S1; Dorman et al, 2004 ; Orange et al, 2004 ; Warnatz et al, 2006 ; Holland et al, 2007 ; Hanson et al, 2008 ; Avery et al, 2010 ; de Beaucoudrey et al, 2010 ; Ma et al, 2012 , 2015 ; Deenick et al, 2013 ; Kotlarz et al, 2013 , 2014 ; Salzer et al, 2014 ; Erman et al, 2015 ; Kreins et al, 2015 ; Stepensky et al, 2015 ; Lovell et al, 2016 ). Human tonsils were obtained from healthy donors undergoing routine tonsillectomy (Mater Hospital, North Sydney, NSW, Australia).…”

Section: Methodsmentioning

confidence: 99%

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets

Cindy

Wong

Rao

et al. 2016

Journal of Experimental Medicine

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104

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“…Two systematic reviews on PID in histoplasmosis and coccidioidomycoses were recently published. Lovell et al ( 86 ) summarized all published cases of histoplasmosis in patients with PID up to August 2015 and revealed 47 patients with underlying PID, defined either molecularly or clinically. Together with the four patients described in their report, more than 50 PID patients have been documented to have Histoplasma infection.…”

Section: Pids In Endemic Mycoses: Needles In a Haystack?mentioning

confidence: 99%

“…Disseminated and cutaneous forms of histoplasmosis have been reported in eight patients in patients with X-linked hyper-IgM disorder (Table 4 ). Five cases had disseminated histoplasmosis, while two had lymphadenitis and one had cutaneous involvement only ( 86 , 110 – 115 ). All of them responded well to antifungal therapy, and only two patients had recurrent histoplasmosis ( 86 , 111 ).…”

Section: Pids Underlying Fungal Infectionsmentioning

confidence: 99%

Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses

Lee

Lau

2017

Front. Immunol.

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The global burden of fungal diseases has been increasing, as a result of the expanding number of susceptible individuals including people living with human immunodeficiency virus (HIV), hematopoietic stem cell or organ transplant recipients, patients with malignancies or immunological conditions receiving immunosuppressive treatment, premature neonates, and the elderly. Opportunistic fungal pathogens such as Aspergillus, Candida, Cryptococcus, Rhizopus, and Pneumocystis jiroveci are distributed worldwide and constitute the majority of invasive fungal infections (IFIs). Dimorphic fungi such as Histoplasma capsulatum, Coccidioides spp., Paracoccidioides spp., Blastomyces dermatiditis, Sporothrix schenckii, Talaromyces (Penicillium) marneffei, and Emmonsia spp. are geographically restricted to their respective habitats and cause endemic mycoses. Disseminated histoplasmosis, coccidioidomycosis, and T. marneffei infection are recognized as acquired immunodeficiency syndrome (AIDS)-defining conditions, while the rest also cause high rate of morbidities and mortalities in patients with HIV infection and other immunocompromised conditions. In the past decade, a growing number of monogenic immunodeficiency disorders causing increased susceptibility to fungal infections have been discovered. In particular, defects of the IL-12/IFN-γ pathway and T-helper 17-mediated response are associated with increased susceptibility to endemic mycoses. In this review, we put together the various forms of endemic mycoses on the map and take a journey around the world to examine how cellular and molecular defects of the immune system predispose to invasive endemic fungal infections, including primary immunodeficiencies, individuals with autoantibodies against interferon-γ, and those receiving biologic response modifiers. Though rare, these conditions provide importance insights to host defense mechanisms against endemic fungi, which can only be appreciated in unique climatic and geographical regions.

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Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies

Abstract: Summary In the absence of acquired or secondary immunosuppression, mutations causing failure to properly activate the IL-12/IFN-γ pathway, NF-κB, or STAT3 should be excluded in patients presenting with severe histoplasmosis.

Cited by 12 publications

References 9 publications

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets

Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses

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