TY  - CONF
AU  - Ljubičić, Jelena
AU  - Bogdanović, Aleksandar
AU  - Babić, Tamara
AU  - Despotović, Jovana
AU  - Dugalić, Vladimir
AU  - Nikolić, Aleksandra
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2100
AB  - Background: Our previous study has identified variant rs745430558 in the SMAD4 gene promoter as potential biomarker for adenocarcinoma of the pancreas. The allele delTT (10T instead of 12T) was present in malignant pancreatic tissue with a prevalence of 88%. As analysis of cfDNA in liquid biopsy represents a noninvasive approach for the diagnosis and monitoring of malignancies, the aim of this study was to determine the presence of 12T and 10T alleles in the peripheral blood of patients with suspected pancreatic malignancy. Material and Methods: The study was performed using cell-free DNA (cfDNA) isolated from the serum of 15 patients with morphological alterations of the pancreas. The presence of 12T and 10T alleles was assessed by allele specific quantitative real-time PCR. Results: Of 15 analyzed samples, 13 were diagnosed with adenocarcinoma of the pancreas (AcP), 1 with neuroendocrine tumor (NET), and 1 with pancreatitis. The 10T allele was present in 84.7% of cases with AcP and also in the sample from the patient with NET. In patient with pancreatitis only the 12T allele was detected. Conclusion: Our research has shown that the results of liquid biopsy of patients with AcP are in agreement with tissue specimens analysis. Targeted detection of the rs745430558 10T variant in patients with suspected pancreatic malignancies could be a potential biomarker for diagnosis of AcP in the future.
PB  - Belgrade :  Serbian Association on for Cancer Research
C3  - 6th Congress of the Serbian Association for Cancer Research (SDIR)
T1  - Variant rs745430558 in the SMAD4 gene promoter as a biomarker for adenocarcinoma of the pancreas
EP  - 85
IS  - 1
SP  - 85
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2100
ER  - 

@conference{
author = "Ljubičić, Jelena and Bogdanović, Aleksandar and Babić, Tamara and Despotović, Jovana and Dugalić, Vladimir and Nikolić, Aleksandra",
year = "2023",
abstract = "Background: Our previous study has identified variant rs745430558 in the SMAD4 gene promoter as potential biomarker for adenocarcinoma of the pancreas. The allele delTT (10T instead of 12T) was present in malignant pancreatic tissue with a prevalence of 88%. As analysis of cfDNA in liquid biopsy represents a noninvasive approach for the diagnosis and monitoring of malignancies, the aim of this study was to determine the presence of 12T and 10T alleles in the peripheral blood of patients with suspected pancreatic malignancy. Material and Methods: The study was performed using cell-free DNA (cfDNA) isolated from the serum of 15 patients with morphological alterations of the pancreas. The presence of 12T and 10T alleles was assessed by allele specific quantitative real-time PCR. Results: Of 15 analyzed samples, 13 were diagnosed with adenocarcinoma of the pancreas (AcP), 1 with neuroendocrine tumor (NET), and 1 with pancreatitis. The 10T allele was present in 84.7% of cases with AcP and also in the sample from the patient with NET. In patient with pancreatitis only the 12T allele was detected. Conclusion: Our research has shown that the results of liquid biopsy of patients with AcP are in agreement with tissue specimens analysis. Targeted detection of the rs745430558 10T variant in patients with suspected pancreatic malignancies could be a potential biomarker for diagnosis of AcP in the future.",
publisher = "Belgrade :  Serbian Association on for Cancer Research",
journal = "6th Congress of the Serbian Association for Cancer Research (SDIR)",
title = "Variant rs745430558 in the SMAD4 gene promoter as a biomarker for adenocarcinoma of the pancreas",
pages = "85-85",
number = "1",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2100"
}

Ljubičić, J., Bogdanović, A., Babić, T., Despotović, J., Dugalić, V.,& Nikolić, A.. (2023). Variant rs745430558 in the SMAD4 gene promoter as a biomarker for adenocarcinoma of the pancreas. in 6th Congress of the Serbian Association for Cancer Research (SDIR)
Belgrade :  Serbian Association on for Cancer Research.(1), 85-85.
https://hdl.handle.net/21.15107/rcub_imagine_2100

Ljubičić J, Bogdanović A, Babić T, Despotović J, Dugalić V, Nikolić A. Variant rs745430558 in the SMAD4 gene promoter as a biomarker for adenocarcinoma of the pancreas. in 6th Congress of the Serbian Association for Cancer Research (SDIR). 2023;(1):85-85.
https://hdl.handle.net/21.15107/rcub_imagine_2100 .

Ljubičić, Jelena, Bogdanović, Aleksandar, Babić, Tamara, Despotović, Jovana, Dugalić, Vladimir, Nikolić, Aleksandra, "Variant rs745430558 in the SMAD4 gene promoter as a biomarker for adenocarcinoma of the pancreas" in 6th Congress of the Serbian Association for Cancer Research (SDIR), no. 1 (2023):85-85,
https://hdl.handle.net/21.15107/rcub_imagine_2100 .

TY  - JOUR
AU  - Stojanović, Maja
AU  - Barac, Aleksandra
AU  - Miskovic, Rada
AU  - Jovanovic, Dragana
AU  - Bolpacic, Jasna
AU  - Ljubičić, Jelena
AU  - Stevanović, Goran
AU  - Jovanović, Snezana
AU  - Bogdanović, Andrija
PY  - 2023
UR  - https://www.jidc.org/index.php/journal/article/view/37956374
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2224
AB  - Introduction: Autoantibodies (AAb) are a hallmark of immune-mediated inflammatory diseases. Malaria is a parasitic disease caused by Plasmodium protozoa. Individuals with malaria may present with a wide range of symptoms. It is frequently linked to the development of different AAb.Case description: A 35-year-old male presented with repeated episodes of fever, malaise, myalgia, dark urine, and yellowish sclera. Initial diagnostic workup revealed severe Coombs-positive anemia, increased C-reactive protein, and procalcitonin, pathological liver tests, high concentration of serum IgE, IgG, IgM, IgA, positive antinuclear antibodies (ANA), and positive antineutrophil cytoplasmatic antibodies (ANCA). In addition, myositis-specific antibodies directed to polymiositis-scleroderma 75 protein (PmScl75), threonyl-tRNA synthetase (PL-7), alanyl-tRNA synthetase (PL-12), Mi-2 antigen (Mi-2), Ku DNA helicase complex (Ku), signal recognition particle (SRP), and antiaminoacyl tRNA synthetase (EJ) were detected. The patient was suspected of having systemic lupus erythematosus and sent to the Clinic of Allergy and Immunology for further evaluation and treatment. A peripheral blood film examined by the hematologist during an episode of fever revealed intra-erythrocytic parasitic forms of Plasmodium vivax (P. vivax). After being diagnosed with P. vivax malaria, he was transferred to the Clinic for Infective and Tropical Diseases. The therapy consisted of artesunate/mefloquine and prednisone led to a complete clinical recovery and autoantibodies gradually disappeared.Conclusions: Malaria would not normally be considered during the initial diagnostic workup in a non-traveler and a patient from a non-endemic country. However, a thorough parasitic evaluation in patients presenting with a broad range of autoantibodies might be of particular importance.
T2  - The Journal of Infection in Developing Countries
T1  - Myositis-specific autoantibodies in a non-traveler, patient from a non-endemic country, with Plasmodium vivax malaria
EP  - 1500
IS  - 10
SP  - 1497
VL  - 17
DO  - 10.3855/jidc.18482
ER  - 

@article{
author = "Stojanović, Maja and Barac, Aleksandra and Miskovic, Rada and Jovanovic, Dragana and Bolpacic, Jasna and Ljubičić, Jelena and Stevanović, Goran and Jovanović, Snezana and Bogdanović, Andrija",
year = "2023",
abstract = "Introduction: Autoantibodies (AAb) are a hallmark of immune-mediated inflammatory diseases. Malaria is a parasitic disease caused by Plasmodium protozoa. Individuals with malaria may present with a wide range of symptoms. It is frequently linked to the development of different AAb.Case description: A 35-year-old male presented with repeated episodes of fever, malaise, myalgia, dark urine, and yellowish sclera. Initial diagnostic workup revealed severe Coombs-positive anemia, increased C-reactive protein, and procalcitonin, pathological liver tests, high concentration of serum IgE, IgG, IgM, IgA, positive antinuclear antibodies (ANA), and positive antineutrophil cytoplasmatic antibodies (ANCA). In addition, myositis-specific antibodies directed to polymiositis-scleroderma 75 protein (PmScl75), threonyl-tRNA synthetase (PL-7), alanyl-tRNA synthetase (PL-12), Mi-2 antigen (Mi-2), Ku DNA helicase complex (Ku), signal recognition particle (SRP), and antiaminoacyl tRNA synthetase (EJ) were detected. The patient was suspected of having systemic lupus erythematosus and sent to the Clinic of Allergy and Immunology for further evaluation and treatment. A peripheral blood film examined by the hematologist during an episode of fever revealed intra-erythrocytic parasitic forms of Plasmodium vivax (P. vivax). After being diagnosed with P. vivax malaria, he was transferred to the Clinic for Infective and Tropical Diseases. The therapy consisted of artesunate/mefloquine and prednisone led to a complete clinical recovery and autoantibodies gradually disappeared.Conclusions: Malaria would not normally be considered during the initial diagnostic workup in a non-traveler and a patient from a non-endemic country. However, a thorough parasitic evaluation in patients presenting with a broad range of autoantibodies might be of particular importance.",
journal = "The Journal of Infection in Developing Countries",
title = "Myositis-specific autoantibodies in a non-traveler, patient from a non-endemic country, with Plasmodium vivax malaria",
pages = "1500-1497",
number = "10",
volume = "17",
doi = "10.3855/jidc.18482"
}

Stojanović, M., Barac, A., Miskovic, R., Jovanovic, D., Bolpacic, J., Ljubičić, J., Stevanović, G., Jovanović, S.,& Bogdanović, A.. (2023). Myositis-specific autoantibodies in a non-traveler, patient from a non-endemic country, with Plasmodium vivax malaria. in The Journal of Infection in Developing Countries, 17(10), 1497-1500.
https://doi.org/10.3855/jidc.18482

Stojanović M, Barac A, Miskovic R, Jovanovic D, Bolpacic J, Ljubičić J, Stevanović G, Jovanović S, Bogdanović A. Myositis-specific autoantibodies in a non-traveler, patient from a non-endemic country, with Plasmodium vivax malaria. in The Journal of Infection in Developing Countries. 2023;17(10):1497-1500.
doi:10.3855/jidc.18482 .

Stojanović, Maja, Barac, Aleksandra, Miskovic, Rada, Jovanovic, Dragana, Bolpacic, Jasna, Ljubičić, Jelena, Stevanović, Goran, Jovanović, Snezana, Bogdanović, Andrija, "Myositis-specific autoantibodies in a non-traveler, patient from a non-endemic country, with Plasmodium vivax malaria" in The Journal of Infection in Developing Countries, 17, no. 10 (2023):1497-1500,
https://doi.org/10.3855/jidc.18482 . .

TY  - CONF
AU  - Ljubičić, Jelena
AU  - Mišković, R.
AU  - Bonaci Nikolic, B.
AU  - Jovanović, D.
AU  - Pavlović, Sonja
AU  - Rašković, S.
AU  - Stojanović, M.
PY  - 2023
UR  - https://ipic2023.com/wp-content/uploads/2023/11/IPIC2023-List-of-Approved-Abstracts.pdf
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2262
AB  - Agammaglobulinemia is a primary immunodeficiency characterized by a low
number or absence of mature B lymphocytes and consequently by immunoglobulin deficiency.
In 2021, six patients with pathogenic variants in SPI1 gene associated with
agammaglobulinemia type 10 (PU.MA) were described for the first time. This gene encodes the
pioneer transcription factor PU.1, which plays an important role in the differentiation of B
lymphocytes, monocytes, and conventional dendritic cells. Here we present a female patient
with a novel mutation in SPI1 gene which has not been previously found in patients with PU.MA.
Case description: A 37-year-old female patient with frequent middle ear infections in early
childhood was diagnosed with agammaglobulinemia at the age of 15 when she started
immunoglobulin replacement therapy (IgRT). One year later, an allogeneic hematopoietic stem
cell transplant from a healthy sibling donor was performed. Unfortunately, chimerism analysis
found no DNA material from the donor in the patient's blood, suggesting graft rejection, so she
remained dependent on antibody replacement therapy. Years later, she was diagnosed with
protein-losing enteropathy, and despite escalating doses of IgRT, IgG levels remained low.
Subsequently, the patient developed persistent COVID -19 viremia and bacterial
meningoencephalitis. Clinical exome sequencing using the TruSight (Illumina) panel was
performed and in comparision with the human reference genome (hg19), has revealed a
heterozygous mutation in exon 4 of the SPI1 gene. This mutation is characterized by the
insertion of 2 nucleotides (c.441dup), a reading frame shift, and the insertion of a premature
stop codon. According to the American College of Medical Genetics and Genomics, this
mutation is described as a likely pathogenic-class 2 (PVS1_Very Strong).
Conclusion: From analysis of previous literature, we concluded that the mutant sequence in
exon 4 encodes the PEST region of the pioneer transcription factor PU.1, which is responsible
for interaction with other transcription factors. Immunophenotyping of peripheral blood cells did
not reveal CD19+ B cells, suggesting that a differentiation arrest may have developed between
the prepro-B and pro-B stages, where there is a high requirement for PU.1 activity. Nextgeneration
sequencing can be a very useful tool to uncover the causes of rare primary
immunodeficiencies, but further analysis is needed to explain the relationship between patient
genotype and clinical presentation.
PB  - International Patient Organisation for Primary Immunodeficiencies (IPOPI)
C3  - International Primary Immunodeficiencies Congress (IPIC2023)
T1  - A novel spi1 mutation in a patient with agammaglobulinemia
IS  - 71
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2262
ER  - 

@conference{
author = "Ljubičić, Jelena and Mišković, R. and Bonaci Nikolic, B. and Jovanović, D. and Pavlović, Sonja and Rašković, S. and Stojanović, M.",
year = "2023",
abstract = "Agammaglobulinemia is a primary immunodeficiency characterized by a low
number or absence of mature B lymphocytes and consequently by immunoglobulin deficiency.
In 2021, six patients with pathogenic variants in SPI1 gene associated with
agammaglobulinemia type 10 (PU.MA) were described for the first time. This gene encodes the
pioneer transcription factor PU.1, which plays an important role in the differentiation of B
lymphocytes, monocytes, and conventional dendritic cells. Here we present a female patient
with a novel mutation in SPI1 gene which has not been previously found in patients with PU.MA.
Case description: A 37-year-old female patient with frequent middle ear infections in early
childhood was diagnosed with agammaglobulinemia at the age of 15 when she started
immunoglobulin replacement therapy (IgRT). One year later, an allogeneic hematopoietic stem
cell transplant from a healthy sibling donor was performed. Unfortunately, chimerism analysis
found no DNA material from the donor in the patient's blood, suggesting graft rejection, so she
remained dependent on antibody replacement therapy. Years later, she was diagnosed with
protein-losing enteropathy, and despite escalating doses of IgRT, IgG levels remained low.
Subsequently, the patient developed persistent COVID -19 viremia and bacterial
meningoencephalitis. Clinical exome sequencing using the TruSight (Illumina) panel was
performed and in comparision with the human reference genome (hg19), has revealed a
heterozygous mutation in exon 4 of the SPI1 gene. This mutation is characterized by the
insertion of 2 nucleotides (c.441dup), a reading frame shift, and the insertion of a premature
stop codon. According to the American College of Medical Genetics and Genomics, this
mutation is described as a likely pathogenic-class 2 (PVS1_Very Strong).
Conclusion: From analysis of previous literature, we concluded that the mutant sequence in
exon 4 encodes the PEST region of the pioneer transcription factor PU.1, which is responsible
for interaction with other transcription factors. Immunophenotyping of peripheral blood cells did
not reveal CD19+ B cells, suggesting that a differentiation arrest may have developed between
the prepro-B and pro-B stages, where there is a high requirement for PU.1 activity. Nextgeneration
sequencing can be a very useful tool to uncover the causes of rare primary
immunodeficiencies, but further analysis is needed to explain the relationship between patient
genotype and clinical presentation.",
publisher = "International Patient Organisation for Primary Immunodeficiencies (IPOPI)",
journal = "International Primary Immunodeficiencies Congress (IPIC2023)",
title = "A novel spi1 mutation in a patient with agammaglobulinemia",
number = "71",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2262"
}

Ljubičić, J., Mišković, R., Bonaci Nikolic, B., Jovanović, D., Pavlović, S., Rašković, S.,& Stojanović, M.. (2023). A novel spi1 mutation in a patient with agammaglobulinemia. in International Primary Immunodeficiencies Congress (IPIC2023)
International Patient Organisation for Primary Immunodeficiencies (IPOPI).(71).
https://hdl.handle.net/21.15107/rcub_imagine_2262

Ljubičić J, Mišković R, Bonaci Nikolic B, Jovanović D, Pavlović S, Rašković S, Stojanović M. A novel spi1 mutation in a patient with agammaglobulinemia. in International Primary Immunodeficiencies Congress (IPIC2023). 2023;(71).
https://hdl.handle.net/21.15107/rcub_imagine_2262 .

Ljubičić, Jelena, Mišković, R., Bonaci Nikolic, B., Jovanović, D., Pavlović, Sonja, Rašković, S., Stojanović, M., "A novel spi1 mutation in a patient with agammaglobulinemia" in International Primary Immunodeficiencies Congress (IPIC2023), no. 71 (2023),
https://hdl.handle.net/21.15107/rcub_imagine_2262 .