Detalhe da pesquisa
1.
Impact of newborn screening for SCID on the management of congenital athymia.
J Allergy Clin Immunol
; 153(1): 330-334, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37678573
2.
A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.
Int J Mol Sci
; 25(8)2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674071
3.
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
4.
Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report.
Int J Mol Sci
; 22(17)2021 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502390
5.
Knowledge Discovery from Medical Data and Development of an Expert System in Immunology.
Entropy (Basel)
; 23(6)2021 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34073080
6.
BCG Moreau Vaccine Safety Profile and NK Cells-Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency.
J Clin Immunol
; 40(1): 138-146, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749033
7.
Thymus transplantation for complete DiGeorge syndrome: European experience.
J Allergy Clin Immunol
; 140(6): 1660-1670.e16, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28400115
8.
Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.
Clin Immunol
; 176: 77-86, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28104464
9.
A Pitfall of Whole Exome Sequencing: Variants in the 5'UTR Splice Site of BTK Causing XLA.
J Clin Immunol
; 42(3): 709-712, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091978
10.
Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland.
Eur J Pediatr
; 175(8): 1099-105, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27357411
11.
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
J Clin Immunol
; 35(6): 538-49, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26271390
12.
Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans.
J Autoimmun
; 50: 42-50, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24369837
13.
Facilitated subcutaneous immunoglobulin treatment patterns in pediatric patients with primary immunodeficiency diseases.
Immunotherapy
; 16(6): 391-403, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38362629
14.
Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation.
J Clin Immunol
; 33(4): 731-41, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23389235
15.
Subcutaneous immunoglobulin 20% (Ig20Gly) treatment regimens in pediatric patients with primary immunodeficiencies - real-world data from the IG TATRY study.
Expert Rev Clin Immunol
; 19(10): 1281-1291, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37489744
16.
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.
Cytometry A
; 81(10): 835-42, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22851427
17.
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.
Blood
; 115(23): 4770-7, 2010 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20378756
18.
Lack of relationship between 25-hydoxyvitamin D concentration and a titer of antibodies to hepatitis B surface antigen in children under 12 years of age.
PLoS One
; 17(11): e0277473, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36355809
19.
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Front Immunol
; 13: 1033338, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341401
20.
National experience with adenosine deaminase deficiency related SCID in Polish children.
Front Immunol
; 13: 1058623, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36685585