Logo des Robert Koch-InstitutLogo des Robert Koch-Institut
Publikationsserver des Robert Koch-Institutsedoc
de|en
Publikation anzeigen 
  • edoc Startseite
  • Artikel in Fachzeitschriften
  • Artikel in Fachzeitschriften
  • Publikation anzeigen
  • edoc Startseite
  • Artikel in Fachzeitschriften
  • Artikel in Fachzeitschriften
  • Publikation anzeigen
JavaScript is disabled for your browser. Some features of this site may not work without it.
Gesamter edoc-ServerBereiche & SammlungenTitelAutorSchlagwortDiese SammlungTitelAutorSchlagwort
PublizierenEinloggenRegistrierenHilfe
StatistikNutzungsstatistik
Gesamter edoc-ServerBereiche & SammlungenTitelAutorSchlagwortDiese SammlungTitelAutorSchlagwort
PublizierenEinloggenRegistrierenHilfe
StatistikNutzungsstatistik
Publikation anzeigen 
  • edoc Startseite
  • Artikel in Fachzeitschriften
  • Artikel in Fachzeitschriften
  • Publikation anzeigen
  • edoc Startseite
  • Artikel in Fachzeitschriften
  • Artikel in Fachzeitschriften
  • Publikation anzeigen
2010-11-01Zeitschriftenartikel DOI: 10.1097/MD.0b013e3181fdd832
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
Beaucoudrey, Ludovic de
Samarina, Arina
Bustamante, Jacinta
Cobat, Aurélie
Boisson-Dupuis, Stéphanie
Feinberg, Jacqueline
Al-Muhsen, Saleh
Jannière, Lucile
Rose, Yoann
Suremain, Maylis de
Kong, Xiao-Fei
Filipe-Santos, Orchidée
Chapgier, Ariane
Picard, Capucine
Fischer, Alain
Dogu, Figen
Ikinciogullari, Aydan
Tanir, Gonul
Al-Hajjar, Sami
Al-Jumaah, Suliman
Frayha, Husn H.
AlSum, Zobaida
Al-Ajaji, Sulaiman
Alangari, Abdullah
Haas, Walter
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.
Dateien zu dieser Publikation
Thumbnail
27fdgeCnpxwV.pdf — PDF — 423.1 Kb
MD5: 9be666dd06da9949fc5d23ba4e23db9b
Zitieren
BibTeX
EndNote
RIS
Keine Lizenzangabe
Zur Langanzeige
Nutzungsbedingungen Impressum Leitlinien Datenschutzerklärung Kontakt

Das Robert Koch-Institut ist ein Bundesinstitut im

Geschäftsbereich des Bundesministeriums für Gesundheit

© Robert Koch Institut

Alle Rechte vorbehalten, soweit nicht ausdrücklich anders vermerkt.

 
DOI
10.1097/MD.0b013e3181fdd832
Permanent URL
https://doi.org/10.1097/MD.0b013e3181fdd832
HTML
<a href="https://doi.org/10.1097/MD.0b013e3181fdd832">https://doi.org/10.1097/MD.0b013e3181fdd832</a>