Detalhe da pesquisa
1.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579284
2.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol
; 152(4): 984-996.e10, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37390899
3.
The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients.
Clin Immunol
; 245: 109155, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243346
4.
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
J Clin Immunol
; 41(4): 756-768, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33464451
5.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34477998
6.
Dynamics of allergy development during the first 5 years of life.
Eur J Pediatr
; 177(9): 1317-1325, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29934773
7.
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia.
Clin Immunol
; 183: 41-45, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28705765
8.
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
9.
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
10.
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
11.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
J Clin Invest
; 134(2)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943617
12.
Severe congenital T-lymphocytopenia may affect the outcome of neonatal intensive care.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37431618
13.
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.
Front Immunol
; 13: 1032358, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36605210
14.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Front Immunol
; 11: 900, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655540
15.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
J Exp Med
; 217(6)2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32207811
16.
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
J Exp Med
; 217(7)2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516385
17.
Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey.
Pediatr Rheumatol Online J
; 8: 29, 2010 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-21539753
18.
Environmental and dietary risk factors for infantile atopic eczema among a Slovak birth cohort.
Pediatr Allergy Immunol
; 17(2): 103-11, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16618359