IFNγR1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH

Khalid, Muhammad Bilal; Lemos, Sónia; Myint‐Hpu, Katherine; Draper, Debbie; Stoddard, Jennifer; Niemela, Julie E.; Rosenzweig, Sergio D.; Pittaluga, Stefania; Delmonte, Ottavia M.; Notarangelo, Luigi D.

doi:10.1111/pai.13653

Cited by 7 publications

(5 citation statements)

References 8 publications

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“…IL-12Rβ1 de ciency is an autosomal recessive disease characterized by susceptibility to recurrent and/or severe infections caused by weakly pathogenic mycobacteria and salmonella. Infections with other intramacrophagic organisms may also occur, although rarely [5,10]. Based on this information, it is believed that the mutation in IFN-γ/IL-12 axis in our patient predisposed her to recurrent Leishmania infections.…”

Section: Discussionmentioning

confidence: 64%

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Recurrent Visceral Leishmaniasis in a Case with Interleukin-12 Receptor Beta-1 Deficiency

uygun,

oren,

Sahinoglu

et al. 2024

Preprint

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Purpose In this study, we present the case of a children who was followed up for recurrent visceral leishmaniasis and diagnosed with IL-12Rβ1 deficiency.Methods A female patient who received Bacille Calmette-Guérin (BCG) vaccine 2 months after birth and developed visceral leishmaniasis at the age of 91 months was subsequently diagnosed with IL-12Rβ1 deficiency. The patient's diagnosis and treatment process were examined retrospectively.Results IL-12Rβ1 deficiency is an autosomal recessive disease characterized by susceptibility to recurrent and/or severe infections caused by weakly pathogenic mycobacteria and salmonella. Infections with other intramacrophagic organisms may also occur, although rarely. Based on this information, it is believed that the mutation in the IFN-γ/IL-12 axis in our patient predisposed her to recurrent Leishmania infections.Conclusion This study adds to the limited literature on IL12RB1 deficiency as a cause of VL. Patients diagnosed with VL should be evaluated immunologically, as recurrent Leishmania infections may occur in those with IL-12Rβ1 defects.

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Section: Discussionmentioning

confidence: 64%

“…Genetic disorders or de ciencies in the IL-12/IFN-γ axis can cause susceptibility to Leishmania infections [5]. While the frequency of VL increases in cases where the immune system is suppressed, there are few studies showing its relationship with primary de ciencies [6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Recurrent Visceral Leishmaniasis in a Case with Interleukin-12 Receptor Beta-1 Deficiency

uygun,

oren,

Sahinoglu

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…While in the murine model Leishmania major infection has been originally used to define the Th1/Th2 cell polarization paradigm, further studies in the experimental model and in humans have shown complex and dynamic immune responses ( 31 – 33 ). The importance of IFN-γ immunity in the control of leishmaniasis is also proven by previous case reports describing patients with defects in the IL-12/IFN-γ circuitry ( 34 , 35 ). Among other inborn errors of immunity (IEI), leishmaniasis was also reported in chronic granulomatous disease (CGD), which is characterized by neutrophil dysfunction.…”

Section: Discussionmentioning

confidence: 72%

Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature

et al. 2022

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X-linked hyper-IgM (XHIGM) syndrome is caused by mutations of the CD40LG gene, encoding the CD40L protein. The clinical presentation is characterized by early-onset infections, with profound hypogammaglobulinemia and often elevated IgM, susceptibility to opportunistic infections, such asPneumocystis jiroveciipneumonia, biliary tract disease due toCryptosporidium parvum, and malignancy. We report a 41-year-old male presenting with recurrent leishmaniasis, hypogammaglobulinemia, and myopathy. Whole-exome sequencing (WES) identified a missense variant in the CD40LG gene (c.107T>A, p.M36K), involving the transmembrane domain of the protein and a missense variant in the carnitine palmitoyl-transferase II (CPT2; c.593C>G; p.S198C) gene, leading to the diagnosis of hypomorphic XHIGM and CPT2 deficiency stress-induced myopathy. A review of all the previously reported cases of XHIGM with variants in the transmembrane domain showcased that these patients could present with atypical clinical features. Variants in the transmembrane domain of CD40LG act as hypomorphic generating a protein with a lower surface expression. Unlike large deletions or extracellular domain variants, they do not abolish the interaction with CD40, therefore preserving some biological activity.

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“…Despite the increased incidence of VL in immunosuppressed patients, its association with primary immunodeficiencies is almost unreported. Some case reports have shown that, in several primary immunodeficiencies VL may be the first manifestation of immunodeficiency with an unusual clinical manifestation or as a disease refractory to treatment 4,5,6 . However, there is a lack of knowledge about the occurrence of VL in patients with inborn errors of immunity (IEI), or a lack of investigation of primary immunodeficiency in patients with unusual clinical forms or refractory to treatment.…”

Section: Introductionmentioning

confidence: 99%

Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity

Carvalho,

Vasconcelos,

Santos

et al. 2023

Rev. Soc. Bras. Med. Trop.

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Visceral Leishmaniasis (VL) is a potentially fatal disease and may be associated with primary or acquired immunodeficiencies. There are few reports, in the literature, of inborn errors of immunity. Here, we report two cases of VL as a marker of inborn errors of immunity, namely, GATA2 and RAB27A deficiency. Our data suggest that VL patients should be screened for primary immunodeficiency, particularly in cases of VL relapse.

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IFNγR1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH

Cited by 7 publications

References 8 publications

Recurrent Visceral Leishmaniasis in a Case with Interleukin-12 Receptor Beta-1 Deficiency

Recurrent Visceral Leishmaniasis in a Case with Interleukin-12 Receptor Beta-1 Deficiency

Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature

Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity

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