16 results on '"Rojas-Restrepo, Jessica"'
Search Results
2. Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry
- Author
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Rojas-Restrepo, Jessica, Sindram, Elena, Zenke, Simon, Haberstroh, Hanna, Mitsuiki, Noriko, Gabrysch, Annemarie, Huebscher, Katrin, Posadas-Cantera, Sara, Krausz, Máté, Kobbe, Robin, Rohr, Jan C., Grimbacher, Bodo, and Gámez-Díaz, Laura
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- 2023
- Full Text
- View/download PDF
3. Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry
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Rojas‑Restrepo, Jessica, Sindram, Elena, Zenke, Simon, Haberstroh, Hanna, Mitsuiki, Noriko, Gabrysch, Annemarie, Huebscher, Katrin, Posadas‑Cantera, Sara, Krausz, Máté, Kobbe, Robin, Rohr, Jan C., Grimbacher, Bodo, and Gamez‑Diaz, Laura
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- 2023
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- View/download PDF
4. Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients
- Author
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Volk, Timo, Warnatz, Klaus, Marks, Reinhard, Urbach, Horst, Schluh, Gisela, Strohmeier, Valentina, Rojas-Restrepo, Jessica, Grimbacher, Bodo, and Rauer, Sebastian
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- 2022
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- View/download PDF
5. Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
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Frede, Natalie, Rojas-Restrepo, Jessica, Caballero Garcia de Oteyza, Andrés, Buchta, Mary, Hübscher, Katrin, Gámez-Díaz, Laura, Proietti, Michele, Saghafi, Shiva, Chavoshzadeh, Zahra, Soler-Palacin, Pere, Galal, Nermeen, Adeli, Mehdi, Aldave-Becerra, Juan Carlos, Al-Ddafari, Moudjahed Saleh, Ardenyz, Ömür, Atkinson, T. Prescott, Kut, Fulya Bektas, Çelmeli, Fatih, Rees, Helen, Kilic, Sara S., Kirovski, Ilija, Klein, Christoph, Kobbe, Robin, Korganow, Anne-Sophie, Lilic, Desa, Lunt, Peter, Makwana, Niten, Metin, Ayse, Özgür, Tuba Turul, Karakas, Ayse Akman, Seneviratne, Suranjith, Sherkat, Roya, Sousa, Ana Berta, Unal, Ekrem, Patiroglu, Turkan, Wahn, Volker, von Bernuth, Horst, Whiteford, Margo, Doffinger, Rainer, Jouhadi, Zineb, and Grimbacher, Bodo
- Published
- 2021
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6. Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients
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Meshaal, Safa, El Hawary, Rabab, Adel, Rana, Abd Elaziz, Dalia, Erfan, Aya, Lotfy, Sohilla, Hafez, Mona, Hassan, Mona, Johnson, Matthew, Rojas-Restrepo, Jessica, Gamez-Diaz, Laura, Grimbacher, Bodo, Shoman, Walaa, Abdelmeguid, Yasmine, Boutros, Jeannette, Galal, Nermeen, El-Guindy, Nancy, and Elmarsafy, Aisha
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- 2020
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7. Therapeutic options for CTLA-4 insufficiency
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Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., Grimbacher, Bodo, Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo
- Abstract
Background: Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness. Objective: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level. Methods: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated. Results: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed. Conclusion: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.
- Published
- 2022
8. Therapeutic options for CTLA-4 insufficiency
- Author
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German Research Foundation, Federal Ministry of Education and Research (Germany), University of Zurich, Egg, David [0000-0002-7467-8960], Grimbacher, Bodo [0000-0002-6897-6806], Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, María Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, María, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E, Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofía, Buchbinder, David, Arkwright, Peter D., Grimbacher, Bodo, German Research Foundation, Federal Ministry of Education and Research (Germany), University of Zurich, Egg, David [0000-0002-7467-8960], Grimbacher, Bodo [0000-0002-6897-6806], Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, María Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, María, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E, Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofía, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo
- Abstract
[Background]: Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness., [Objective]: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level., [Methods]: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated., [Results]: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed., [Conclusion]: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.
- Published
- 2022
9. Therapeutic options for CTLA-4 insufficiency
- Author
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Egg, David, primary, Rump, Ina Caroline, additional, Mitsuiki, Noriko, additional, Rojas-Restrepo, Jessica, additional, Maccari, Maria-Elena, additional, Schwab, Charlotte, additional, Gabrysch, Annemarie, additional, Warnatz, Klaus, additional, Goldacker, Sigune, additional, Patiño, Virginia, additional, Wolff, Daniel, additional, Okada, Satoshi, additional, Hayakawa, Seiichi, additional, Shikama, Yoshiaki, additional, Kanda, Kenji, additional, Imai, Kohsuke, additional, Sotomatsu, Manabu, additional, Kuwashima, Makoto, additional, Kamiya, Takahiro, additional, Morio, Tomohiro, additional, Matsumoto, Kazuaki, additional, Mori, Takeshi, additional, Yoshimoto, Yuri, additional, Dybedal, Ingunn, additional, Kanariou, Maria, additional, Kucuk, Zeynep Yesim, additional, Chapdelaine, Hugo, additional, Petruzelkova, Lenka, additional, Lorenz, Hanns-Martin, additional, Sullivan, Kathleen E., additional, Heimall, Jennifer, additional, Moutschen, Michel, additional, Litzman, Jiri, additional, Recher, Mike, additional, Albert, Michael H., additional, Hauck, Fabian, additional, Seneviratne, Suranjith, additional, Pachlopnik Schmid, Jana, additional, Kolios, Antonios, additional, Unglik, Gary, additional, Klemann, Christian, additional, Snapper, Scott, additional, Giulino-Roth, Lisa, additional, Svaton, Michael, additional, Platt, Craig D., additional, Hambleton, Sophie, additional, Neth, Olaf, additional, Gosse, Geraldine, additional, Reinsch, Steffen, additional, Holzinger, Dirk, additional, Kim, Yae-Jean, additional, Bakhtiar, Shahrzad, additional, Atschekzei, Faranaz, additional, Schmidt, Reinhold, additional, Sogkas, Georgios, additional, Chandrakasan, Shanmuganathan, additional, Rae, William, additional, Derfalvi, Beata, additional, Marquart, Hanne Vibeke, additional, Ozen, Ahmet, additional, Kiykim, Ayca, additional, Karakoc-Aydiner, Elif, additional, Králíčková, Pavlína, additional, de Bree, Godelieve, additional, Kiritsi, Dimitra, additional, Seidel, Markus G., additional, Kobbe, Robin, additional, Dantzer, Jennifer, additional, Alsina, Laia, additional, Armangue, Thais, additional, Lougaris, Vassilios, additional, Agyeman, Philipp, additional, Nyström, Sofia, additional, Buchbinder, David, additional, Arkwright, Peter D., additional, and Grimbacher, Bodo, additional
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- 2022
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10. Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study
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Rojas-Restrepo, Jessica, primary, Caballero-Oteyza, Andrés, additional, Huebscher, Katrin, additional, Haberstroh, Hanna, additional, Fliegauf, Manfred, additional, Keller, Baerbel, additional, Kobbe, Robin, additional, Warnatz, Klaus, additional, Ehl, Stephan, additional, Proietti, Michele, additional, and Grimbacher, Bodo, additional
- Published
- 2021
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11. Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients
- Author
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Volk, Timo, primary, Warnatz, Klaus, additional, Marks, Reinhard, additional, Urbach, Horst, additional, Schluh, Gisela, additional, Strohmeier, Valentina, additional, Rojas-Restrepo, Jessica, additional, Grimbacher, Bodo, additional, and Rauer, Sebastian, additional
- Published
- 2021
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12. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
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Klemann, Christian, Camacho-Ordonez, Nadezhda, Yang, Linlin, Eskandarian, Zoya, Rojas-Restrepo, Jessica L., Frede, Natalie, Bulashevska, Alla, Heeg, Maximilian, Al-Ddafari, Moudjahed Saleh, Premm, Julian, Seidl, Maximilian, Ammann, Sandra, Sherkat, Roya, Radhakrishnan, Nita, Warnatz, Klaus, Unger, Susanne, Kobbe, Robin, Hüfner, Anja, Leahy, T. Ronan, Ip, Winnie, Burns, Siobhan O., Fliegauf, Manfred, and Grimbacher, Bodo
- Subjects
DAVID-syndrome ,Adult ,CD4-Positive T-Lymphocytes ,Male ,Adolescent ,Primary Immunodeficiency Diseases ,Immunology ,NF-kappaB2 clinical cases ,CD8-Positive T-Lymphocytes ,Lymphocyte Activation ,T-Lymphocytes, Regulatory ,NF-kappaB signaling ,CID ,Young Adult ,NF-kappa B p52 Subunit ,Humans ,Child ,Original Research ,Cell Proliferation ,ACTH-deficiency ,B-Lymphocytes ,CVID ,autoimmunity ,NF-kappa B ,Cell Differentiation ,Middle Aged ,Phenotype ,Mutation ,Female ,deficiency of anterior pituitary function and variable immunodeficiency - Abstract
Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous mutations in NFKB2 have recently been established as a molecular cause of common variable immunodeficiency (CVID) and DAVID-syndrome, a rare condition combining deficiency of anterior pituitary hormone with CVID. Here, we investigate 15 previously unreported patients with primary immunodeficiency (PID) from eleven unrelated families with heterozygous NFKB2-mutations including eight patients with the common p.Arg853* nonsense mutation and five patients harboring unique novel C-terminal truncating mutations. In addition, we describe the clinical phenotype of two patients with proximal truncating mutations. Cohort analysis extended to all 35 previously published NFKB2-cases revealed occurrence of early-onset PID in 46/50 patients (mean age of onset 5.9 years, median 4.0 years). ACTH-deficiency occurred in 44%. Three mutation carriers have deceased, four developed malignancies. Only two mutation carriers were clinically asymptomatic. In contrast to typical CVID, most patients suffered from early-onset and severe disease manifestations, including clinical signs of T cell dysfunction e.g., chronic-viral or opportunistic infections. In addition, 80% of patients suffered from (predominately T cell mediated) autoimmune (AI) phenomena (alopecia > various lymphocytic organ-infiltration > diarrhea > arthritis > AI-cytopenia). Unlike in other forms of CVID, auto-antibodies or lymphoproliferation were not common hallmarks of disease. Immunophenotyping showed largely normal or even increased quantities of naïve and memory CD4+ or CD8+ T-cells and normal T-cell proliferation. NK-cell number and function were also normal. In contrast, impaired B-cell differentiation and hypogammaglobinemia were consistent features of NFKB2-associated disease. In addition, an array of lymphocyte subpopulations, such as regulatory T cell, Th17-, cTFH-, NKT-, and MAIT-cell numbers were decreased. We conclude that heterozygous damaging mutations in NFKB2 represent a distinct PID entity exceeding the usual clinical spectrum of CVID. Impairment of the non-canonical NF-κB pathways affects function and differentiation of numerous lymphocyte-subpopulations and thus causes a heterogeneous, more severe form of PID phenotype with early-onset. Further characteristic features are multifaceted, primarily T cell-mediated autoimmunity, such as alopecia, lymphocytic organ infiltration, and in addition frequently ACTH-deficiency.
- Published
- 2019
13. Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood
- Author
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Schepp, Johanna, Proietti, Michele, Frede, Natalie, Buchta, Mary, Hübscher, Katrin, Rojas Restrepo, Jessica, Goldacker, Sigune, Warnatz, Klaus, Pachlopnik Schmid, Jana, Duppenthaler, Andrea, Lougaris, Vassilios, Uriarte, Ignacio, Kelly, Susan, Hershfield, Michael, Grimbacher, Bodo, University of Zurich, and Grimbacher, Bodo
- Subjects
Adult ,Male ,Adolescent ,Adenosine Deaminase ,2745 Rheumatology ,Immunology ,610 Medicine & health ,Young Adult ,Rheumatology ,Immunology and Allergy ,Humans ,Lymphocyte Count ,Vascular Diseases ,2403 Immunology ,B-Lymphocytes ,Homozygote ,Immunologic Deficiency Syndromes ,High-Throughput Nucleotide Sequencing ,DNA ,Sequence Analysis, DNA ,Middle Aged ,Female ,Intercellular Signaling Peptides and Proteins ,Mutation ,Phenotype ,Stroke ,10036 Medical Clinic ,2723 Immunology and Allergy ,Sequence Analysis - Abstract
OBJECTIVE We aimed to test the relevance of deficiency of adenosine deaminase 2 (DADA2) in patients with antibody deficiency and describe the clinical picture of the disease in adulthood. METHODS We screened for DADA2 in a cohort of 181 patients with antibody deficiency with or without vascular lesions using next-generation sequencing and targeted Sanger sequencing. All mutations were confirmed by determining the ADA2 enzymatic activity levels in dried plasma spots. Clinical data and laboratory values were collected in a standardized format. RESULTS Following the diagnosis of 2 siblings in the index family, we identified 9 additional affected patients with compound heterozygous or homozygous CECR1 mutations, containing 6 novel and 4 previously published mutations. The patients' age at evaluation ranged from 13 to 51 years, with a median age of 22 years. Clinically, we saw a broad phenotype, ranging from isolated antibody deficiency to recurrent strokes. All but 1 patient had low numbers of memory B cells. Moreover, B cell function seemed to correlate with inflammation. CONCLUSION Taken together, our findings indicate that DADA2 presents not only with vasculopathy but also with an immunodeficiency of the B cell compartment. Therefore, patients with antibody deficiency should be screened for DADA2. Anti-tumor necrosis factor treatment might improve immunologic features over time and might be considered in patients without vascular manifestations but with elevated inflammation markers. Conservative management has so far proven to be the choice for our less severely affected adolescent and adult DADA2 patients; however, in patients with severe cytopenias and bone marrow failure, hematopoietic stem cell transplantation should be considered.
- Published
- 2016
14. ZNF341 controls STAT3 expression and thereby immunocompetence
- Author
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Frey-Jakobs, Stefanie, primary, Hartberger, Julia M., additional, Fliegauf, Manfred, additional, Bossen, Claudia, additional, Wehmeyer, Magdalena L., additional, Neubauer, Johanna C., additional, Bulashevska, Alla, additional, Proietti, Michele, additional, Fröbel, Philipp, additional, Nöltner, Christina, additional, Yang, Linlin, additional, Rojas-Restrepo, Jessica, additional, Langer, Niko, additional, Winzer, Sandra, additional, Engelhardt, Karin R., additional, Glocker, Cristina, additional, Pfeifer, Dietmar, additional, Klein, Adi, additional, Schäffer, Alejandro A., additional, Lagovsky, Irina, additional, Lachover-Roth, Idit, additional, Béziat, Vivien, additional, Puel, Anne, additional, Casanova, Jean-Laurent, additional, Fleckenstein, Bernhard, additional, Weidinger, Stephan, additional, Kilic, Sara S., additional, Garty, Ben-Zion, additional, Etzioni, Amos, additional, and Grimbacher, Bodo, additional
- Published
- 2018
- Full Text
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15. Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood
- Author
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Schepp, Johanna, primary, Proietti, Michele, additional, Frede, Natalie, additional, Buchta, Mary, additional, Hübscher, Katrin, additional, Rojas Restrepo, Jessica, additional, Goldacker, Sigune, additional, Warnatz, Klaus, additional, Pachlopnik Schmid, Jana, additional, Duppenthaler, Andrea, additional, Lougaris, Vassilios, additional, Uriarte, Ignacio, additional, Kelly, Susan, additional, Hershfield, Michael, additional, and Grimbacher, Bodo, additional
- Published
- 2017
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16. Validación de la técnica de dihidrorodamina 123 para el diagnóstico de la enfermedad granulomatosa crónica en Colombia
- Author
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Rojas-Restrepo, Jessica Lineth, primary, Álvarez-Álvarez, Jesús Armando, additional, Montoya-Giraldo, Juan David, additional, and Trujillo-Vargas, Claudia Milena, additional
- Published
- 2014
- Full Text
- View/download PDF
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