Revisiting human IL-12Rß1 deficiency: A survey of 141 patients from 30 countries
- De Beaucoudrey L.
- Samarina A.
- Bustamante J.
- Cobat A.
- Boisson-Dupuis S.
- Feinberg J.
- Al-Muhsen S.
- Jannière L.
- Rose Y.
- De Suremain M.
- Kong X.-F.
- Filipe-Santos O.
- Chapgier A.
- Picard C.
- Fischer A.
- Dogu F.
- Ikinciogullari A.
- Tanir G.
- Al-Hajjar S.
- Al-Jumaah S.
- Frayha H.H.
- Alsum Z.
- Al-Ajaji S.
- Alangari A.
- Al-Ghonaium A.
- Adimi P.
- Mansouri D.
- Ben-Mustapha I.
- Yancoski J.
- Garty B.-Z.
- Rodriguez-Gallego C.
- Caragol I.
- Kutukculer N.
- Kumararatne D.S.
- Patel S.
- Doffinger R.
- Exley A.
- Jeppsson O.
- Reichenbach J.
- Nadal D.
- Boyko Y.
- Pietrucha B.
- Anderson S.
- Levin M.
- Schandené L.
- Schepers K.
- Efira A.
- Mascart F.
- Matsuoka M.
- Sakai T.
- Siegrist C.-A.
- Frecerova K.
- Blüetters-Sawatzki R.
- Bernhöft J.
- Freihorst J.
- Baumann U.
- Richter D.
- Haerynck F.
- De Baets F.
- Novelli V.
- Lammas D.
- Vermylen C.
- Tuerlinckx D.
- Nieuwhof C.
- Pac M.
- Haas W.H.
- Müller-Fleckenstein I.
- Fleckenstein B.
- Levy J.
- Raj R.
- Cohen A.C.
- Lewis D.B.
- Holland S.M.
- Yang K.D.
- Wang X.
- Wang X.
- Jiang L.
- Yang X.
- Zhu C.
- Xie Y.
- Lee P.P.W.
- Chan K.W.
- Chen T.-X.
- Castro G.
- Natera I.
- Codoceo A.
- King A.
- Bezrodnik L.
- Di Giovani D.
- Gaillard M.I.
- De Moraes-Vasconcelos D.
- Grumach A.S.
- Da Silva Duarte A.J.
- Aldana R.
- Espinosa-Rosales F.J.
- Bejaoui M.
- Bousfiha A.A.
- Baghdadi J.E.
- Özbek N.
- Aksu G.
- Keser M.
- Somer A.
- Hatipoglu N.
- Aydogmus C.
- Asilsoy S.
- Camcioglu Y.
- Gülle S.
- Ozgur T.T.
- Ozen M.
- Oleastro M.
- Bernasconi A.
- Mamishi S.
- Parvaneh N.
- Rosenzweig S.
- Barbouche R.
- Pedraza S.
- Lau Y.L.
- Ehlayel M.S.
- Fieschi C.
- Abel L.
- Sanal O.
- Casanova J.-L.
DOIAbstract
PubMed ID: 21057261Interleukin-12 receptor ß1 (IL-12Rß1) 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 asymptomat...
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