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1.
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Hum Mol Genet
; 30(3-4): 226-233, 2021 04 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33517393
2.
Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.
Int J Mol Sci
; 24(9)2023 May 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37176024
3.
Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene.
Int J Mol Sci
; 24(2)2023 Jan 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36674612
4.
The pediatric common variable immunodeficiency - from genetics to therapy: a review.
Eur J Pediatr
; 181(4): 1371-1383, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34939152
5.
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.
Allergol Immunopathol (Madr)
; 50(4): 1-9, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35789397
6.
Granulomatous Lymphocytic Interstitial Lung Disease in a Spectrum of Pediatric Primary Immunodeficiencies.
Pediatr Dev Pathol
; 24(6): 504-512, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34176349
7.
The CXCR5 T follicular helper cell compartment in children with antibody deficiencies-in search of a prognostic marker of childhood hypogammaglobulinemia.
Allergol Immunopathol (Madr)
; 49(2): 113-121, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33641302
8.
Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.
Allergol Immunopathol (Madr)
; 49(4): 117-136, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34224226
9.
Factors causing oral and skin pathological features in the hyperimmunoglobulin E syndrome patient including the environmental component: a review of the literature and own experience.
Postepy Dermatol Alergol
; 37(3): 326-332, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32792871
10.
Cutaneous and systemic granulomatosis in ataxia-telangiectasia: a clinico-pathological study.
Postepy Dermatol Alergol
; 37(5): 760-765, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33240017
11.
Fatal pulmonary complications in an immunodeficient child with chronic active Epstein-Barr virus infection.
Pneumonol Alergol Pol
; 82(4): 364-7, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24964240
12.
Cytomegalovirus pneumonia as the first manifestation of severe combined immunodeficiency.
Cent Eur J Immunol
; 39(3): 392-5, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-26155153
13.
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.
Front Genet
; 14: 1108852, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37347054
14.
Imaging in children with ataxia-telangiectasia-The radiologist's approach.
Front Pediatr
; 10: 988645, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36186632
15.
Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach.
Front Pediatr
; 10: 855200, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35402361
16.
Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience.
Front Pediatr
; 10: 972952, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36340711
17.
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.
Front Pediatr
; 10: 990111, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36313893
18.
COVID-19 in unvaccinated patients with inborn errors of immunity-polish experience.
Front Immunol
; 13: 953700, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36211407
19.
Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge.
Front Pediatr
; 9: 798959, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35036396
20.
[Interstitial lung disease associated with surfactant protein B and C deficiencies]. / Sródmiazszowa choroba pluc u dzieci zwiazana z niedoborem biatek B i C surfaktantu.
Pneumonol Alergol Pol
; 78(3): 224-8, 2010.
Artículo
en Polaco
| MEDLINE | ID: mdl-20461691