46 results on '"Pac, Malgorzata"'
Search Results
2. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
3. European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia
4. Impact of newborn screening for SCID on the management of congenital athymia
5. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
6. A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA
7. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
8. Impact of newborn screening for SCID on the management of congenital athymia
9. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
10. Impact of newborn screening for SCID on the management of congenital athymia
11. Vitamin D deficiency in children with recurrent respiratory infections, with or without immunoglobulin deficiency
12. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
13. Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections
14. Editorial: Advances in primary immunodeficiencies (inborn errors of immunity) in Central-Eastern Europe, volume II
15. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
16. 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
17. Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation
18. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
19. Thymus transplantation for complete DiGeorge syndrome: European experience
20. Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients
21. Efficacy and Safety of Hizentra®, a New 20% Immunoglobulin Preparation for Subcutaneous Administration, in Pediatric Patients with Primary Immunodeficiency
22. Editorial: Advances in Primary Immunodeficiency in Central-Eastern Europe
23. EuroFlow standardized approach to diagnostic immunopheneotyping of severe PID in newborns and young children
24. The patients’ organisations of children with primary immunodeficiency in Poland
25. Genetic characteristics of eighty-seven patients with the Wiskott–Aldrich syndrome
26. Systemic Redox Imbalance in Patients with Chronic Granulomatous Disease
27. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children
28. A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report
29. Revisiting human IL-12R(beta)1 deficiency: a survey of 141 patients from 30 countries
30. Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study
31. Disseminated bacillus Calmette-Guerin infection and immunodeficiency
32. Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled
33. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
34. Structure of the O-specific polysaccharide from the legume endosymbiotic bacterium Ochrobactrum cytisi strain ESC1T
35. The O-specific polysaccharides from Phyllobacterium trifolii PETP02T LPS contain 3-C-methyl-d-rhamnose
36. Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome
37. Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome
38. Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children – 34-year experience of a single center
39. Europe immunoglobulin map
40. SIROLIMUS AS A TREATMENT OPTION IN PATIENTS WITH ALPS – EXPERIENCE OF ONE CENTER
41. Wiskott–Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans
42. Recurrent Oral Inflammation in Autoimmune Lymphoproliferative Syndrome
43. Pulmonary Lymphomatoid Granulomatosis in Griscelli Syndrome Type 2
44. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
45. The patients’ organisations of children with primary immunodeficiency in Poland
46. IgG Subclasses and Antibody Response to Pneumococcal Capsular Polysaccharides in Children with Severe Sinopulmonary Infections and Asthma
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