Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries
Medicine · Kasım 2010
YÖKSİS Kayıtları
Makale Bilgileri
DergiMedicine
Yayın TarihiKasım 2010
Cilt / Sayfa89 · 381-402
Scopus ID2-s2.0-78649351360
Erişim🔓 Açık Erişim
Özet
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. © 2010 Lippincott Williams & Wilkins.
Yazarlar (100)
1
Ludovic De Beaucoudrey
2
Arina Samarina
3
Jacinta Bustamante
4
Aurélie Cobat
ORCID: 0000-0001-7209-6257
5
Stéphanie Boisson-Dupuis
6
Jacqueline Feinberg
7
Saleh Zaid Al-Muhsen
8
Lucile Janniere
9
Yoann Rose
10
Maylis de Suremain
11
Xiao Fei Kong
12
Orchidée Filipe-Santos
13
Ariane Chapgier
14
Capucine Picard
15
Alain Fischer
16
Figen Dogu
17
Aydan Ikinciogullari
18
Gonul Tanir
19
Sami Al Hajjar
20
Suliman Al-Jumaah
21
Husn H. Frayha
22
Zobaida Alsum
23
Sulaiman Al-Ajaji
24
Abdullah Alangari
25
Abdulaziz Al-Ghonaium
26
Parisa Adimi
27
Davood Mansouri
28
Imen Ben-Mustapha
29
Judith Yancoski
30
Ben Zion Garty
31
Carlos Rodriguez-Gallego
32
Isabel Caragol
33
Necil Kütükçüler
34
Dinakantha Kumararatne
35
Smita Patel
36
Rainer Doffinger
37
Andrew Exley
38
Olle Jeppsson
39
Janine Reichenbach
40
David Nadal
41
Yaryna Boyko
42
Barbara Pietrucha
43
Suzanne Anderson
44
Michael Levin
ORCID: 0000-0003-2767-6919
45
Liliane Schandené
46
Kinda Schepers
47
André Efira
48
Françoise Mascart
49
Masao Matsuoka
50
Tatsunori Sakai
51
Claire Anne Siegrist
52
Klara Frecerova
53
Renate Blüetters-Sawatzki
54
Jutta Bernhöft
55
Joachim Freihorst
56
Ulrich Baumann
57
Darko Richter
58
Filomeen Haerynck
ORCID: 0000-0001-9161-7361
59
Frans De Baets
60
Vas Novelli
61
David Lammas
62
Christiane Vermylen
63
David Tuerlinckx
64
Chris Nieuwhof
65
Malgorzata Pac
66
Walther H. Haas
67
Ingrid Müller-Fleckenstein
68
Bernhard Fleckenstein
69
Jacob Levy
70
Revathi Raj
71
Aileen Cleary Cohen
72
David B. Lewis
73
Steven M. Holland
74
Kuender D. Yang
75
Xiaochuan Wang
76
Xiaohong Wang
77
Liping Jiang
78
Xiqiang Yang
79
Chaomin Zhu
80
Yuanyuan Xie
81
Pamela Pui Wah Lee
82
Koon Wing Chan
83
Tong Xin Chen
84
Gabriela Castro
85
Ivelisse Natera
86
Ana Codoceo
87
Alejandra King
88
Liliana Bezrodnik
89
Daniela Di Giovani
90
Maria Isabel Gaillard
91
Dewton De Moraes-Vasconcelos
92
Anete Sevciovic Grumach
93
Alberto Jose Da Silva Duarte
94
Ruth Aldana
95
Francisco J. Espinosa-Rosales
96
Mohamed Bejaoui
97
Ahmed A. Bousfiha
98
Jamila El Baghdadi
99
Namik Özbek
100
Guside Aksu
Kurumlar
Addenbrooke's Hospital
Cambridge United Kingdom
Ankara Üniversitesi
Ankara Turkey
Apollo Hospitals Group
Chennai India
Başkent Üniversitesi
Ankara Turkey
Ben-Gurion University of the Negev
Beer-Sheva Israel
Centre Hospitalier Universitaire Ibn Rochd
Casablanca Morocco
Centre National de Greffe de Moelle Osseuse
Tunis Tunisia
Chang Gung University
Taoyuan Taiwan
Children's Hospital of Chongqing Medical University
Chongqing China
Children’s Hospital of Fudan University
Shanghai China
Cliniques Universitaires Saint-Luc
Brussels Belgium
College of Medicine
Riyadh Saudi Arabia
Dr. Sami Ulus Children's Hospital
Ankara Turkey
Ege University Medical School
Izmir Turkey
Friedrich-Alexander-Universität Erlangen-Nürnberg
Erlangen Germany
Great Ormond Street Hospital for Children NHS Foundation Trust
London United Kingdom
Hannover Medical School
Hannover Germany
Hôpital Erasme
Brussels Belgium
Hôpital Necker Enfants Malades
Paris France
Hospital de Gran Canaria Dr. Negrin
Las Palmas de Gran Canaria Spain
Hospital de Ninos Ricardo Gutierrez
Buenos Aires Argentina
Hospital de Pediatria SAMIC Prof. Dr. Juan P. Garrahan
Buenos Aires Argentina
Hospital Dr. Luis Calvo Mackenna Hospital
Santiago Chile
Hospital Infantil de México Federico Gómez
Mexico Mexico
Hospital Universitario de Caracas
Caracas Venezuela
Hospital Universitari Vall d'Hebron
Barcelona Spain
Inserm
Paris France
Instituto Nacional de Pediatría
Mexico Mexico
Institut Pasteur de Tunis
Tunis Tunisia
Instytut "Pomnik - Centrum Zdrowia Dziecka"
Warsaw Poland
Karolinska Universitetssjukhuset
Stockholm Sweden
KBC Zagreb
Zagreb Croatia
Kinderspital Zürich
Zurich Switzerland
King Abdulaziz Medical City - Riyadh
Riyadh Saudi Arabia
King Faisal Specialist Hospital & Research Centre
Riyadh Saudi Arabia
Kyoto University
Kyoto Japan
l'Institut des Maladies Génétiques Imagine
Paris France
Lviv Children's Specialized Clinic
Lviv Ukraine
Maastricht Universitair Medisch Centrum+
Maastricht Netherlands
Military Hospital Mohammed V
Agdal Rabat Morocco
Ministry of Health
Bratislava Slovakia
National Hospital Organization Kumamoto Medical Center
Kumamoto Japan
National Institutes of Health (NIH)
Bethesda United States
National Research Institute of Tuberculosis and Lung Disease Tehran
Tehran Iran
Robert Koch Institute
Berlin Germany
Rockefeller University
New York United States
Royal Papworth Hospital NHS Foundation Trust
Cambridge United Kingdom
Schneider Childrens Medical Center Israel
Petah Tiqwa Israel
Shanghai Jiao Tong University School of Medicine
Shanghai China
Stanford University School of Medicine
Stanford United States
St Mary's Hospital
London United Kingdom
The University of Hong Kong
Hong Kong Hong Kong
Universidade de São Paulo
Sao Paulo Brazil
Universidade Federal da Bahia
Salvador Brazil
Universitair Ziekenhuis Gent
Ghent Belgium
Université Catholique de Louvain
Louvain-la-Neuve Belgium
Université de Genève
Geneva Switzerland
Université Libre de Bruxelles
Brussels Belgium
Université Paris Cité
Paris France
University of Birmingham
Birmingham United Kingdom
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346
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100
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