Detalhe da pesquisa
1.
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Blood
; 141(7): 713-724, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36279417
2.
Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects.
Blood
; 139(2): 300-304, 2022 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714911
3.
Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.
J Eur Acad Dermatol Venereol
; 33(7): 1412-1420, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30869812
4.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
J Allergy Clin Immunol
; 141(1): 322-328.e10, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28392333
5.
Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.
Eur J Clin Microbiol Infect Dis
; 33(4): 545-50, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24078025
6.
Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.
Nat Med
; 28(1): 71-80, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35075289
7.
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.
J Exp Med
; 188(4): 627-34, 1998 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-9705945
8.
Review: Why screen for severe combined immunodeficiency disease?
Arch Pediatr
; 27(8): 485-489, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928653
9.
High rates of antiretroviral coverage and virological suppression in HIV-1-infected children and adolescents.
Med Mal Infect
; 50(3): 269-273, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31722862
10.
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.
Clin Transl Gastroenterol
; 9(10): 201, 2018 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385752
11.
Author Correction: Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.
Nat Med
; 28(10): 2217, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945284
12.
[Malignant infantile osteopetrosis: Case report of a 5-month-old boy]. / Ostéopétrose maligne infantile : à propos d'un cas chez un nourrisson de 5 mois.
Arch Pediatr
; 23(4): 389-93, 2016 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-26850155
13.
EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity.
Bone Marrow Transplant
; 56(9): 2052-2062, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34226669
14.
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.
Bone Marrow Transplant
; 36(2): 107-14, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15908971
15.
An update on pediatric invasive aspergillosis.
Med Mal Infect
; 45(6): 189-98, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026226
16.
Aspergillus antigen and PCR assays in bone marrow transplanted children.
Eur J Med Res
; 7(4): 177-80, 2002 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12010653
17.
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis.
Neurology
; 78(15): 1150-6, 2012 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422896
18.
Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.
J Biol Chem
; 275(17): 12672-5, 2000 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-10777560
19.
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.
Hum Mol Genet
; 9(4): 583-8, 2000 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-10699181
20.
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
Blood
; 97(9): 2772-6, 2001 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11313270