Detalhe da pesquisa
1.
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Blood
; 139(16): 2427-2440, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35007328
2.
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
J Clin Immunol
; 42(3): 559-571, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000057
3.
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
J Clin Immunol
; 42(5): 975-985, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338423
4.
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Proc Natl Acad Sci U S A
; 115(34): E8007-E8016, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072435
5.
Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.
J Clin Immunol
; 40(2): 359-366, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940125
6.
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1102, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901356
7.
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1093-1101, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813180
8.
Latin American consensus on the supportive management of patients with severe combined immunodeficiency.
J Allergy Clin Immunol
; 144(4): 897-905, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31419546
9.
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Proc Natl Acad Sci U S A
; 113(51): E8277-E8285, 2016 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27930337
10.
Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation-Case Report.
J Clin Immunol
; 43(1): 65-68, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031667
11.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Blood
; 127(25): 3154-64, 2016 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27114460
12.
Noninfectious complications in patients with pediatric-onset common variable immunodeficiency correlated with defects in somatic hypermutation but not in class-switch recombination.
J Allergy Clin Immunol
; 139(3): 913-922, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27713077
13.
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
J Allergy Clin Immunol
; 140(1): 232-241, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28011069
14.
[Late diagnosis of WHIM sydrome]. / Diagnóstico tardío de síndrome WHIM.
Medicina (B Aires)
; 78(2): 123-126, 2018.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29659363
15.
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.
N Engl J Med
; 371(15): 1407-17, 2014 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25295500
16.
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
J Allergy Clin Immunol
; 138(1): 241-248.e3, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936803
17.
Argentinian X-MAID Siblings with One of Them Manifesting a Rare Ophthalmological Complication.
J Clin Immunol
; 41(8): 1960-1963, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453634
18.
[X-linked agammaglobulinemia in adults. Clinical evolution]. / Agammaglobulinemia ligada al cromosoma X en adultos. Evolución clínica.
Medicina (B Aires)
; 76(2): 65-70, 2016.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27135842
19.
Neutrophils suppress γδ T-cell function.
Eur J Immunol
; 44(3): 819-30, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24271816
20.
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.
Pediatr Blood Cancer
; 62(12): 2101-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185101