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Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFN gamma immunity

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F22%3AN0000054" target="_blank" >RIV/00064190:_____/22:N0000054 - isvavai.cz</a>

  • Result on the web

    <a href="https://doi.org/10.1684/ejd.2022.4281" target="_blank" >https://doi.org/10.1684/ejd.2022.4281</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1684/ejd.2022.4281" target="_blank" >10.1684/ejd.2022.4281</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFN gamma immunity

  • Original language description

    Background: Inborn errors of IL-12/IL-23-IFN gamma immunity underlie Mendelian susceptibility to mycobacterial diseases (MSMD), a group of immunodeficiencies characterized by a highly selective susceptibility to weakly virulent strains of mycobacteria, such as non-tuberculous mycobacteria (NTM) and bacillus Calmette-Guerin (BCG). Cutaneous mycobacterial infections are common in MSMD and may represent a red flag for this immunodeficiency. Objectives: We present a case series of four paediatric patients with MSMD, specifically with IFN gamma R1 and STAT1 deficiencies, and cutaneous NTM/BCG infections to increase awareness of this immunodeficiency, which may, in some cases, be intercepted by the dermatologist and thus timely referred to the immunologist. Materials & Methods: Clinical, laboratory and genetic investigations of the four paediatric patients with MSMD are presented. Results: All four presented patients experienced early complications after BCG vaccination. Two patients suffered recurrent mycobacteriosis, one patient experienced delayed BCG reactivation, and one patient died of disseminated avian mycobacteriosis. The dermatological manifestation in these patients included destructive nasal ulcerations, scrofuloderma of various sites and lupus vulgaris. All patients had a normal basic immune phenotype. Conclusion: The presented cases demonstrate that NTM/BCG infections in otherwise seemingly immunocompetent patients should raise suspicion of MSMD. This is of utmost importance as specific therapeutic approaches, such as IFN gamma treatment or haematopoietic stem cell transplantation, may be employed to improve the disease outcome

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30216 - Dermatology and venereal diseases

Result continuities

  • Project

    <a href="/en/project/NV18-05-00162" target="_blank" >NV18-05-00162: Modern approach to the field of primary immunodeficiencies: translating precise molecular and functional diagnosis to therapy</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2022

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    European Journal of Dermatology

  • ISSN

    1167-1122

  • e-ISSN

    1952-4013

  • Volume of the periodical

    32

  • Issue of the periodical within the volume

    4

  • Country of publishing house

    FR - FRANCE

  • Number of pages

    10

  • Pages from-to

    495 - 504

  • UT code for WoS article

    000922828800001

  • EID of the result in the Scopus database

    2-s2.0-85137314672