Detalhe da pesquisa
1.
[Updated AWMF Guideline on the Diagnosis and Treatment of Langerhans cell Histiocytosis in Children and Adolescents]. / Aktualisierte AWMF Leitlinie zur Diagnostik und Therapie der Langerhanszell Histiozytose (LCH) im Kindes- und Jugendalter.
Klin Padiatr
; 235(6): 322-330, 2023 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-37666270
2.
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Blood
; 130(12): 1456-1467, 2017 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28679735
3.
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
J Allergy Clin Immunol
; 142(4): 1297-1310.e11, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29155098
4.
Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.
Haematologica
; 103(3): 540-549, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29242293
5.
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
J Allergy Clin Immunol
; 139(4): 1302-1310.e4, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27658761
6.
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Blood
; 126(14): 1658-69, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26289640
7.
Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.
Clin Immunol
; 164: 52-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26812624
8.
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.
Clin Immunol
; 161(2): 103-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26187144
9.
Patients with Tâº/low NK⺠IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Eur J Immunol
; 44(10): 3129-40, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25042067
10.
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.
Haematologica
; 100(7): 978-88, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022711
11.
Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation.
J Clin Immunol
; 34(6): 601-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24916357
12.
Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area.
J Pediatr
; 165(1): 147-153.e1, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24797953
13.
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.
Blood
; 119(12): 2754-63, 2012 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294731
14.
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.
J Immunol
; 188(3): 1523-33, 2012 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190180
15.
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome.
Blood
; 118(17): 4620-9, 2011 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21878672
16.
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.
J Allergy Clin Immunol
; 140(6): 1721-1724, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633876
17.
Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.
Blood
; 122(22): 3696-8, 2013 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24263961
18.
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Haematologica
; 95(12): 2080-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20823128
19.
Prolonged KI polyomavirus infection in immunodeficient child.
Emerg Infect Dis
; 18(4): 706-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22469436
20.
Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5).
Blood
; 116(26): 6148-50, 2010 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21183701