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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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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