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/vufind/Search/Results?lookfor=%22Casanova%2C+J-L%22&type=Person&filter%5B%5D=topic_facet%3A%22Case+Reports%22
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PubPharm (30)
1
Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation
enthalten in:
Journal of the European Academy of Dermatology and Venereology : JEADV
| 2020
von
Sáez-de-Ocariz, M.
|
Suárez-Gutiérrez, M.
|
Migaud, M.
| +7
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2
Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency
enthalten in:
Journal of clinical immunology
| 2019
von
Queiroz-Telles, F.
|
Mercier, T.
|
Maertens, J.
| +15
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3
A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings : First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma
enthalten in:
Journal of investigational allergology & clinical immunology
| 2018
von
Gokturk, B.
|
Casanova, J.
|
Picard, C.
| +6
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4
Purulent pericarditis and colonic infiltrating to Salmonella enteritidis complicated by acute intussusception in a case of IL-12Rβ1 deficiency
enthalten in:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
| 2014
von
Ailal, F.
|
Tazi, A.
|
Bustamante, J.
| +4
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5
Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review
enthalten in:
Journal of clinical immunology
| 2014
von
Taramasso, L.
|
Boisson-Dupuis, S.
|
Garrè, M.
| +6
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6
Congenital IL-12R1β receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations : A case report and literature review
enthalten in:
European journal of microbiology & immunology
| 2014
von
Akar, H.
|
Kose, M.
|
Ceylan, O.
| +5
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7
Salmonella vertebral osteitis and sepsis in a girl with interferon gamma pathway deficiency
enthalten in:
Journal of investigational allergology & clinical immunology
| 2012
von
Quezada Chalita, C.
|
Blancas Galicìa, L.
|
Jannière, L.
| +8
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8
Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency
enthalten in:
Journal of investigational allergology & clinical immunology
| 2011
von
Aytekin, C.
|
Dogu, F.
|
Tuygun, N.
| +7
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9
Multifocal infection due to Mycobacterium intracellulare : first case of interferon gamma receptor partial dominant deficiency in tropical French territory
enthalten in:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
| 2007
von
Muszlak, M.
|
Chapgier, A.
|
Barry Harivelo, R.
| +9
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10
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency
enthalten in:
Bone marrow transplantation
| 2006
von
Chantrain, C.
|
Bruwier, A.
|
Brichard, B.
| +6
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Thema: Case Reports
Medienart
30
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23
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7
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Zeitschriftentitel
4
Archives de pediatrie : organe officiel de la S...
3
Journal of investigational allergology & clinic...
3
The Journal of clinical investigation
2
Clinical infectious diseases : an official publ...
2
Journal of clinical immunology
2
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2
The New England journal of medicine
2
The Pediatric infectious disease journal
1
American journal of human genetics
1
Bone marrow transplantation
1
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1
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1
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1
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1
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Pediatrics
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The Journal of pediatrics
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Thema
Case Reports
25
Journal Article
13
Receptors, Interferon
11
Research Support, Non-U.S. Gov't
8
82115-62-6
8
Interferon-gamma
7
BCG Vaccine
5
Receptors, Interleukin-12
4
DNA-Binding Proteins
4
Letter
4
Receptors, Interleukin
4
STAT1 Transcription Factor
4
STAT1 protein, human
3
187348-17-0
3
Interleukin-12
3
Trans-Activators
2
Antibodies, Monoclonal
2
Antifungal Agents
2
DNA, Complementary
2
EC 2.7.11.1
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Erscheinungszeitraum
21
2000-
9
1900-1999
Erscheinungsjahr(e)
Von:
Bis:
Sprache
26
Englisch
4
Französisch
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