Detalhe da pesquisa
1.
Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.
J Clin Immunol
; 36(7): 684-92, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27473539
2.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
J Allergy Clin Immunol
; 136(3): 703-712.e10, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25843314
3.
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
J Clin Immunol
; 35(2): 189-98, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25627830
4.
High incidence of Epstein-Barr virus (EBV)-positive Hodgkin lymphoma and Hodgkin lymphoma-like B-cell lymphoproliferations with EBV latency profile 2 in children with interleukin-2-inducible T-cell kinase deficiency.
Histopathology
; 67(5): 607-16, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728094
5.
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
J Allergy Clin Immunol
; 134(1): 116-26, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24582312
6.
Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects.
J Clin Immunol
; 34(8): 892-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339095
7.
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
Haematologica
; 98(3): 473-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22801960
8.
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey.
Br J Haematol
; 155(4): 468-76, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21923652
9.
Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia.
Blood
; 124(4): 655-7, 2014 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25061172
10.
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.
Haematologica
; 101(10): e392-e396, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27365489
11.
A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age.
Leuk Lymphoma
; 57(12): 2949-2951, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123661