31 results on '"Heropolitańska-Pliszka E"'
Search Results
2. Ataxia–telangiectasia: guidelines for diagnosis and comprehensive care
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Pietrucha, B., primary, Heropolitańska-Pliszka, E., additional, Kmieć, T., additional, Chmielewski, D., additional, Gatti, R., additional, and Bernatowska, E., additional
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- 2008
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3. Twenty five years of investigations into primary immunodeficiency diseases in the Department of Immunology, the Children's Memorial Health Institute, Warsaw
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Wolska-Kuśnierz, B., Pac, M., Pietrucha, B., Heropolitańska-Pliszka, E., Klaudel-Dreszler, M., Kurenko-Deptuch, M., Gregorek, H., Michałkiewicz, J., Pia̧tosa, B., and Ewa Bernatowska
4. Fungal infection - Disease suggesting primary immunodeficiency,Zakażenie grzybicze - Choroba̧ sugeruja̧ca̧ pierwotny niedobór odporności
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Klaudel-Dreszler, M., Heropolitańska-Pliszka, E., Pietrucha, B., and Ewa Bernatowska
5. Problem of asplenia in a patient with autoimmune polyglandular syndrome type 1
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Heropolitańska-Pliszka, E., Bożena Mikołuć, Rowińska, E., Pietrucha, B., Motkowski, R., Westfal, P., Piskorska, E., and Bernatowska, E.
6. Diagnosis and treatment of aspergillosis in the patients with chronic granulomatous disease,Diagnostyka i leczenie zakazeń wywołanych przez Aspergillus spp. u pacjentów z przewlekła choroba ziarniniakowa
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Kurenko-Deptuch, M., Wolska-Kuśnierz, B., Heropolitańska-Pliszka, E., Klaudel-Dreszler, M., Malgorzata Pac, Pietrucha, B., Garczewska, B., and Bernatowska, E.
7. The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency
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Szczawinska-Poplonyk Aleksandra, Kycler Zdzislawa, Pietrucha Barbara, Heropolitanska-Pliszka Edyta, Breborowicz Anna, and Gerreth Karolina
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Medicine - Abstract
Abstract The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities - the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases.
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- 2011
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8. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE syndrome
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Woellner, C., Gertz, M. E., Schaffer, A. A., Lagos, M., Perro, M., Glocker, E. -O, Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitanska-Pliszka, E., Yeganch, M., Moin, M., Espanol, T., Ehl, S., Gennery, A. R., Abinun, M., Breborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sanchez, B., Garty, B-Z, Pignata, C., Cancrini, C., Litzman, J., Sanal, O., Batimann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarstrom, L., Davies, G. E., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Sujoy Khan, Marodi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. M., Grimbacher, B., Woellner, C., Gertz, E. M., Schäffer, A. A., Lagos, M., Perro, M., Glocker, E. O., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitańska Pliszka, E., Yeganeh, M., Moin, M., Español, T., Ehl, S., Gennery, A. R., Abinun, M., Bręborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sánchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarström, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Maródi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. H., and Grimbacher, B.
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Hyper-IgE syndrome ,STAT3 mutation ,TH17 cell ,Job syndrome ,diagnostic guideline ,HIES ,Immunodeficiencies - Abstract
BACKGROUND: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients. METHODS: We collected clinical data, determined T(H)17 cell numbers, and sequenced STAT3 in 100 patients with a strong clinical suspicion of HIES and serum IgE >1000 IU/mL. We explored diagnostic criteria by using a machine-learning approach to identify which features best predict a STAT3 mutation. RESULTS: In 64 patients, we identified 31 different STAT3 mutations, 18 of which were novel. These included mutations at splice sites and outside the previously implicated DNA-binding and Src homology 2 domains. A combination of 5 clinical features predicted STAT3 mutations with 85% accuracy. T(H)17 cells were profoundly reduced in patients harboring STAT3 mutations, whereas 10 of 13 patients without mutations had low (1000IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate. Probable: These characteristics plus lack of T(H)17 cells or a family history for definitive HIES. Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3.
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- 2010
9. Facilitated subcutaneous immunoglobulin treatment patterns in pediatric patients with primary immunodeficiency diseases.
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Mach-Tomalska M, Pituch-Noworolska A, Bień E, Malanowska M, Machura E, Pukas-Bochenek A, Chrobak E, Pac M, Pietrucha B, Drygała S, Kamieniak M, Kasprzak J, and Heropolitańska-Pliszka E
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- Adolescent, Child, Humans, Immunoglobulins therapeutic use, Infusions, Subcutaneous, Retrospective Studies, Hyaluronoglucosaminidase, Primary Immunodeficiency Diseases therapy
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Aim: This retrospective study investigated real-world hyaluronidase-facilitated subcutaneous immunoglobulin (fSCIG) treatment patterns in pediatric patients with primary immunodeficiency diseases (PIDs) in Poland. Methods: Clinical and demographic information, fSCIG treatment parameters and clinical outcomes were extracted from medical records of 28 participants (aged ≤18 years) with PIDs who received fSCIG. Results: 18 participants (64.3%) started fSCIG with a ramp-up (median duration: 35.5 days). 27 patients (96.4%) were administered fSCIG every 4 weeks and one patient every 3 weeks. 25 patients (89.3%) used one infusion site. No serious bacterial infections occurred. Conclusion: Data support the feasibility of administering fSCIG to children and adolescents with PIDs every 3-4 weeks using a single infusion site and indicate flexibility in modifying fSCIG infusion parameters. Clinical Trial Registration: NCT04636502 (ClinicalTrials.gov).
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- 2024
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10. Clinical manifestation for immunoglobulin A deficiency: a systematic review and meta-analysis.
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Vosughimotlagh A, Rasouli SE, Rafiemanesh H, Safarirad M, Sharifinejad N, Madanipour A, Dos Santos Vilela MM, Heropolitańska-Pliszka E, and Azizi G
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Objectives: Immunoglobulin A deficiency (IgAD) is a common disease with an unknown genetic defect, characterized by the decreased or absent IgA with other isotypes normal, normal subclasses, and specific antibodies. Patients with this disorder represent a spectrum of clinical manifestations including infections, autoimmune disorders, malignancy, and allergic diseases. The current study aimed to evaluate their prevalence and categorized them., Methods: We searched PubMed, Web of Science, and Scopus databases to find eligible studies from the earliest available date to January 2022 with standard keywords. Pooled estimates of clinical manifestations prevalence and the corresponding 95% confidence intervals were calculated using random-effects models., Results: The most prevalent clinical manifestations belonged to infection (64.8%) followed by allergic diseases (26.16%) and autoimmunity (22.0%), respectively. In selective IgA deficiency patients as the largest group of IgAD in current study, celiac disease (6.57%), Inflammatory bowel disease (4.01%), and rheumatoid arthritis (3.80%) were the most prevalent autoimmunity. Meanwhile, the most frequent infection was respiratory tract infection, fungal infection, and gastrointestinal infection at 50.74%, 18.48%, and 15.79%, respectively. In addition, the pooled prevalence of asthma, allergic rhinitis, and allergic conjunctivitis were 19.06%, 15.46%, and 11.68%, respectively which were reported as the most widespread allergic diseases., Conclusions: Our results showed that apart from undiagnosed IgAD patients, IgAD patients represent a wide range of clinical manifestations. Infection, allergy, and autoimmunity are the most common clinical manifestations. The concurrent presence of IgA and IgG subtypes deficiency could be associated with increased susceptibility to infection. Considering the probability of developing new clinical complications during follow-up, periodic assessments of IgAD patients should be inspected., (© 2023. Canadian Society of Allergy & Clinical Immunology.)
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- 2023
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11. Subcutaneous immunoglobulin 20% (Ig20Gly) treatment regimens in pediatric patients with primary immunodeficiencies - real-world data from the IG TATRY study.
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Heropolitańska-Pliszka E, Pac M, Pietrucha B, Machura E, Pukas-Bochenek A, Chrobak E, Bień E, Malanowska M, Pituch-Noworolska A, Drygała S, Kamieniak M, Kasprzak J, and Mach-Tomalska M
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- Child, Humans, Retrospective Studies, Immunoglobulin G therapeutic use, Injections, Subcutaneous, Clinical Protocols, Immunoglobulins, Intravenous therapeutic use, Infusions, Subcutaneous, Immunologic Deficiency Syndromes drug therapy
- Abstract
Background: Subcutaneous administration of immunoglobulins is associated with fewer systemic adverse events and easier infusion compared to intravenous administration. Ig20Gly is a 20% immunoglobulin formulation effective and safe in patients with primary immune deficiency diseases (PIDDs). Real-world data are scarce, therefore our study aimed to examine the real-life treatment regimen and clinical outcomes of Ig20Gly in Polish children with PIDDs., Researchdesign: We retrospectively analyzed the medical documentation of 75 pediatric patients aged 0-17 years (mean 9.9) who received Ig20Gly (Cuvitru®; Baxalta US, Inc.; part of Takeda, MA, U.S.A.)., Results: The median exposure to treatment of the study population was 22.3 months. At the end of the study, 59 (78.7%) were still on Ig20Gly. The median monthly dose was 0.40 g/kg. The median treatment interval was 7.7 days. Most patients (96%) used one infusion site. The median infusion rate increased with patient age. The median IgG level in the study population, 8.0 g/L, was stable. There was one case of serious bacterial infection., Conclusion: This is the largest, long-term real-world study to date on the treatment patterns of Ig20Gly in pediatric patients with PIDDs. The results of this study support the feasibility and tolerability of Ig20Gly usage in PIDD patients across the pediatric age spectrum., Trial Registration: The trial is registered at ClinicalTrials.gov (NCT04636502).
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- 2023
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12. Unexpected cystoscopic images in a patient with Chronic Granulomatous Disease.
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Kowalczyk K and Heropolitańska-Pliszka E
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Chronic Granulomatous Disease is a primary immunodeficiency syndrome caused by a phagocytic defect, characterized by recurrent, life-threatening bacterial and fungal infections and an excessive inflammatory response. We present the case of a boy with disease's symptoms mainly from the genitourinary tract. We describe diagnostic difficulties and atypical cystoscopic images, which showed bright morphotic elements of unclear etiology moving in the vessels of the bladder mucosa. These lesions were retrospectively interpreted as clusters of white blood cells (granulomas). Due to the lack of description of a similar phenomenon in the literature, we would like to make the recorded endoscopic images available., (© 2023 The Authors. Published by Elsevier Inc.)
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- 2023
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13. Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies.
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Kuczborska K, Krzemińska E, Buda P, Heropolitańska-Pliszka E, Piątosa B, and Książyk J
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- Humans, Child, SARS-CoV-2, Antibodies, Viral, Lymphocyte Subsets, Immunity, COVID-19, Immunologic Deficiency Syndromes
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Background and Purpose: It is a matter of research, whether children with immunodeficiencies are able to generate an effective immune response to prevent SARS-CoV-2 reinfection. This study aimed to evaluate and compare the seroconversion rates and changes of lymphocyte subsets during COVID-19 in immunocompetent children and those with secondary immunodeficiencies., Methods: In 55 children - 28 immunocompromised and 27 immunocompetent - hospitalized with confirmed SARS-CoV-2 infection, the level of IgG antibodies against the Spike protein was determined on two to three occasions. In those children from the study group whose immunosuppressive treatment did not alter during the study (n = 13) and in selected children from the control group (n = 11), flow cytometric evaluation of lymphocyte subsets was performed twice - 2 weeks and 3 months post-infection., Results: Seroconversion reached 96.3% in both studied groups; however, the immunocompromised cohort achieved lower titers of detectable anti-S antibodies. There was no correlation between seroconversion or titers of antibodies and the total number of lymphocytes or their subsets. In the immunocompetent cohort, we reported a significant decrease in NK cells during the infection. In this group and the entire study population, a positive correlation was noticed between the CD4 + /CD8 + T cell ratio and the severity of COVID-19 pneumonia., Conclusions: Children with secondary immunodeficiencies seroconvert in equal percentages but with a significantly lower titer of anti-S antibodies compared to their immunocompetent peers. The lower number of NK cells in the immunocompetent cohort may result from their participation in antiviral immunity, whereas reduced CD4 + /CD8 + T cell ratios among immunocompromised children may be a protective factor against a severe COVID-19., (© 2022. The Author(s).)
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- 2023
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14. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.
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Tar I, Szegedi M, Krasuska-Sławińska E, Heropolitańska-Pliszka E, Bernatowska EA, Öncü E, Keles S, Guner SN, Reisli I, Gesheva N, Naumova E, Izakovicova-Holla L, Litzman J, Savchak I, Kostyuchenko L, and Erdõs M
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Autosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and activator of transcription 3 (STAT 3). This disease is characterized by chronic eczematoid dermatitis, recurrent staphylococcal skin abscesses, pneumonia, pneumatoceles, and extremely high serum IgE levels. Loss-of-function STAT3 mutations may also result in distinct non-immunologic features such as dental, facial, skeletal, and vascular abnormalities, central nervous system malformations and an increased risk for bone fractures. Prophylactic treatment of Candida infections and prophylactic antimicrobial therapy for staphylococcal skin infections and sinopulmonary infections are essential. An awareness of the oral and maxillofacial features of HIES may facilitate early diagnosis with genetic counselling and may improve future patient care. This study describes oral, dental, and maxillofacial manifestations in 14 patients with genetically defined AD-HIES. We also review the literature and propose recommendations for the complex care of patients with this rare primary immunodeficiency., Competing Interests: The authors declare no conflict of interest., (Copyright © 2023 Termedia.)
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- 2023
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15. Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
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Dabrowska-Leonik N, Pastorczak AK, Bąbol-Pokora K, Bernat-Sitarz K, Piątosa B, Heropolitańska-Pliszka E, Kacprzak MM, Kalwak K, Gul K, van der Burg M, Ussowicz M, and Pac M
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- Female, Humans, Infant, DNA Ligase ATP genetics, Chimerism, Severe Combined Immunodeficiency diagnosis, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency therapy, Hematopoietic Stem Cell Transplantation methods, Anemia, Macrocytic
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DNA ligase I deficiency is an extremely rare primary immunodeficiency with only 6 patients reported in the literature. Most common manifestations include radiosensitivity, macrocytic anemia, lymphopenia with an increased percentage of gamma-delta T cells, and hypogammaglobulinemia requiring replacement therapy. Two-month-old girl with delayed development, T-B-NK+ SCID, and macrocytic anemia presented features of Omenn syndrome. Whole exome sequencing revealed two novel, heterozygous variants (c.2312 G>A, p.Arg771Gly and c.776+5G>T, p.Pro260*) in the LIG1 gene (NM_000234.1). Hematopoietic stem cell transplantation from a fully matched unrelated donor was performed at the age of 4 months using GEFA03 protocol. Mixed donor-recipient chimerism was observed, with 60-70% chimerism in the mononucleated cell compartment and over 90% in T-lymphocyte compartment, but autologous myeloid recovery. Stable CD4+ and CD8+ T-cell counts above 200/µL were achieved after 2 months, but the patient remained transfusion-dependent. Despite satisfactory immunological reconstitution, the second transplantation due to constitutional hemolytic defect has been considered. In light of possible re-transplantation, an issue of optimal conditioning protocol with sufficient myeloid engraftment is important. For the first time Omenn syndrome is described in a compound heterozygote carrying two the novel variants p.Arg771Gly and p.Pro260* in the LIG1 gene. Patients diagnosed with SCID and Omenn syndrome showing macrocytic anemia, should be screened for DNA ligase I deficiency., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Dabrowska-Leonik, Pastorczak, Bąbol-Pokora, Bernat-Sitarz, Piątosa, Heropolitańska-Pliszka, Kacprzak, Kalwak, Gul, Burg, Ussowicz and Pac.)
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- 2022
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16. COVID-19 in unvaccinated patients with inborn errors of immunity-polish experience.
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Kołtan S, Ziętkiewicz M, Grześk E, Becht R, Berdej-Szczot E, Cienkusz M, Ewertowska M, Heropolitańska-Pliszka E, Krysiak N, Lewandowicz-Uszyńska A, Mach-Tomalska M, Matyja-Bednarczyk A, Milchert M, Napiórkowska-Baran K, Pieniawska-Śmiech K, Pituch-Noworolska A, Renke J, Roliński J, Rywczak I, Stelmach-Gołdyś A, Strach M, Suchanek H, Sulicka-Grodzicka J, Szczawińska-Popłonyk A, Tokarski S, Więsik-Szewczyk E, Wolska-Kuśnierz B, Zeman K, and Pac M
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- Adult, Anti-Bacterial Agents, Antiviral Agents, Child, Disease Progression, Humans, Male, Poland, Retrospective Studies, SARS-CoV-2, Systemic Inflammatory Response Syndrome, COVID-19 complications
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At the beginning of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic, patients with inborn errors of immunity (IEI) appeared to be particularly vulnerable to a severe course of the disease. It quickly turned out that only some IEI groups are associated with a high risk of severe infection. However, data on the course of Coronavirus Disease 2019 (COVID-19) in patients with IEI are still insufficient, especially in children; hence, further analyses are required. The retrospective study included 155 unvaccinated people with IEI: 105 children and 50 adults (67.7% and 32.3%, respectively). Male patients dominated in the study group (94 people, 60.6%). At least two comorbidities were found in 50 patients (32.3%), significantly more often in adults (56% vs. 21%). Adult patients presented significantly more COVID-19 symptoms. Asymptomatic and mildly symptomatic course of COVID-19 was demonstrated in 74.8% of the entire group, significantly more often in children (88.6% vs. 46%). Moderate and severe courses dominated in adults (54% vs. 11.4%). Systemic antibiotic therapy was used the most frequently, especially in adults (60% vs. 14.3%). COVID-19-specific therapy was used almost exclusively in adults. In the whole group, complications occurred in 14.2% of patients, significantly more often in adults (30% vs. 6.7%). In the pediatric group, there were two cases (1.9%) of multisystem inflammatory syndrome in children. Deaths were reported only in the adult population and accounted for 3.9% of the entire study group. The death rate for all adults was 12%, 15.4% for adults diagnosed with common variable immunodeficiency, 12.5% for those with X-linked agammaglobulinemia, and 21.4% for patients with comorbidity. The results of our study imply that vaccinations against COVID-19 should be recommended both for children and adults with IEI. Postexposure prophylaxis and early antiviral and anti-SARS-CoV-2 antibody-based therapies should be considered in adults with IEI, especially in those with severe humoral immune deficiencies and comorbidity., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Kołtan, Ziętkiewicz, Grześk, Becht, Berdej-Szczot, Cienkusz, Ewertowska, Heropolitańska-Pliszka, Krysiak, Lewandowicz-Uszyńska, Mach-Tomalska, Matyja-Bednarczyk, Milchert, Napiórkowska-Baran, Pieniawska-Śmiech, Pituch-Noworolska, Renke, Roliński, Rywczak, Stelmach-Gołdyś, Strach, Suchanek, Sulicka-Grodzicka, Szczawińska-Popłonyk, Tokarski, Więsik-Szewczyk, Wolska-Kuśnierz, Zeman and Pac.)
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- 2022
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17. Case report: Successful allogeneic stem cell transplantation in a child with novel GATA2 defect associated B-cell acute lymphoblastic leukemia.
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Heropolitańska-Pliszka E, Piątosa B, Szmydki-Baran A, Kuczborska K, Miarka-Walczyk K, Pastorczak A, Młynarski W, Sędek Ł, Szczepański T, and Ussowicz M
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- Adult, Child, Child, Preschool, Female, GATA2 Transcription Factor genetics, Humans, Transplantation Conditioning methods, Young Adult, Graft vs Host Disease etiology, Hematopoietic Stem Cell Transplantation adverse effects, Precursor Cell Lymphoblastic Leukemia-Lymphoma therapy
- Abstract
GATA-binding protein 2 ( GATA2 ) is a transcription factor responsible for the regulation of blood cell proliferation, differentiation, and maintenance in hematopoietic stem cells. Here, we describe successful bone marrow transplantation in a carrier of a novel GATA2 pathogenic variant who was diagnosed with immunodeficiency a few years after completion of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) treatment. At the age of 4 years, the patient was diagnosed with and treated for BCP-ALL. Antileukemic therapy was complicated by pulmonary cryptococcosis. Two years after completion of the maintenance therapy, the child was consulted by an immunologist because of recurrent respiratory tract infections and an episode of sepsis. Flow cytometry revealed deep monocytopenia, lymphopenia, absence of B lymphocytes, considerably reduced NK cells, poor thymic T lymphocyte production, minor defects in T cell maturation, and absence of TCRγδ+ T cells. The presence of the likely pathogenic, heterozygous missense variant within exon 5 of GATA2 (NM_032638.5: c.1047T>G, Cys349Trp) was identified in the proband and confirmed in the father of the patient, who underwent allogeneic hematopoietic stem cell transplantation (HSCT) from a matched unrelated donor due to myelodysplastic syndrome with excess blasts at the age of 22 years. An allogeneic hematopoietic stem cell transplantation with a reduced toxicity conditioning protocol was performed using a matched sibling donor. Pre-transplant conditioning included fludarabine (5 × 30 mg/m2), treosulfan (3 × 14 g/m2), and thiotepa (10 mg/kg). Complete donor chimerism was achieved on post-transplant day 17. During the 12 months of the posttransplant observation period, she remained free from symptoms of acute or chronic graft-versus-host disease, and immunosuppressive treatment was therefore stopped. This is the second reported case of BCP-ALL in a patient with GATA2 deficiency, and the first successfully treated with a reduced-toxicity conditioning HSCT protocol. The co-occurrence of lymphoid malignancies and primary immunodeficiencies points to the role of genetic counseling and family screening for possible cancer predisposition syndromes prior to the selection of related HSCT donors., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Heropolitańska-Pliszka, Piątosa, Szmydki-Baran, Kuczborska, Miarka-Walczyk, Pastorczak, Młynarski, Sędek, Szczepański and Ussowicz.)
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- 2022
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18. BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw.
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Bernatowska E, Pac M, Heropolitańska-Pliszka E, Pietrucha B, Dąbrowska-Leonik N, Skomska-Pawliszak M, Bernat-Sitarz K, Krzysztopa-Grzybowska K, Wolska-Kuśnierz B, Bohynikova N, Augustynowicz E, Augustynowicz-Kopeć E, Korzeniewska-Koseła M, Wieteska-Klimczak A, Książyk J, Jackowska T, van den Burg M, Casanova JL, Picard C, and Mikołuć B
- Abstract
Objective: We aimed to assess BCG (Bacillus Calmette-Guérin) complications in patients with Inborn Errors of Immunity (IEI), according to the inherited disorders and associated immunological defects, as well as the different BCG substrains., Material: We studied adverse reactions to the locally-produced BCG Moreau vaccine, analyzed in patients with IEI diagnosed between 1980 and 2020 in the Department of Immunology, Children's Memorial Health Institute (CMHI), Warsaw. These results were compared with previously published studies., Results: Significantly fewer disseminated BCG infections (BCGosis) were found in 11 of 72 (15%) SCID (Severe Combined Immunodeficiency) NK (Natural Killer)-phenotype patients, when compared with the 119 out of 349 (34%) ( p = 0.0012) patients with SCID with BCG in other countries. Significantly fewer deaths caused by BCGosis were observed ( p = 0.0402). A significantly higher number of hematopoietic stem cell transplantations (HSCTs) were performed in the CMHI study ( p = 0.00001). BCGosis was found in six patients with Mendelian susceptibility to mycobacterial diseases (MSMD). Other patients with IEI prone to BCG complications, such as CGD (Chronic Granulomatous Disease), showed no case of BCGosis., Conclusion: The BCG Moreau substrain vaccine, produced in Poland since 1955, showed genetic differences with its parental Brazilian substrain together with a superior clinical safety profile in comparison with the other BCG substrains, with no BCGosis in patients with IEI other than SCID and MSMD. Our data also confirmed significantly fewer cases of BCGosis and deaths caused by BCG infection in patients with SCID with this vaccine substrain. Finally, they confirmed the protecting role of NK cells, probably via their production of IFN-γ., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Bernatowska, Pac, Heropolitańska-Pliszka, Pietrucha, Dąbrowska-Leonik, Skomska-Pawliszak, Bernat-Sitarz, Krzysztopa-Grzybowska, Wolska-Kuśnierz, Bohynikova, Augustynowicz, Augustynowicz-Kopeć, Korzeniewska-Koseła, Wieteska-Klimczak, Książyk, Jackowska, van den Burg, Casanova, Picard and Mikołuć.)
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- 2022
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19. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
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Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, and Vissers LELM
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- Humans, Mutation, Missense, Phenotype, Syndrome, DNA-Binding Proteins genetics, Intellectual Disability genetics, Minor Histocompatibility Antigens genetics
- Abstract
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded protein promotes pre-mRNA splicing of many genes essential for development. Whereas individual phenotypic traits have previously been linked to erroneous splicing of SON target genes, the phenotypic spectrum and the pathogenicity of missense variants have not been further evaluated. We present the phenotypic abnormalities in 52 individuals, including 17 individuals who have not been reported before. In total, loss-of-function variants were detected in 49 individuals (de novo in 47, inheritance unknown in 2), and in 3, a missense variant was observed (2 de novo, 1 inheritance unknown). Phenotypic abnormalities, systematically collected and analyzed in Human Phenotype Ontology, were found in all organ systems. Significant inter-individual phenotypic variability was observed, even in individuals with the same recurrent variant (n = 13). SON haploinsufficiency was previously shown to lead to downregulation of downstream genes, contributing to specific phenotypic features. Similar functional analysis for one missense variant, however, suggests a different mechanism than for heterozygous loss-of-function. Although small in numbers and while pathogenicity of these variants is not certain, these data allow for speculation whether de novo missense variants cause ZTTK syndrome via another mechanism, or a separate overlapping syndrome. In conclusion, heterozygous loss-of-function variants in SON define a recognizable syndrome, ZTTK, associated with a broad, severe phenotypic spectrum, characterized by a large inter-individual variability. These observations provide essential information for affected individuals, parents, and healthcare professionals to ensure appropriate clinical management., (© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.)
- Published
- 2022
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20. Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.
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Sharifinejad N, Zaki-Dizaji M, Tebyanian S, Zainaldain H, Jamee M, Rizvi FS, Hosseinzadeh S, Fayyaz F, Hamedifar H, Sabzevari A, Matloubi M, Heropolitańska-Pliszka E, Aghamahdi F, Abolhassani H, and Azizi G
- Subjects
- Adolescent, Autoantibodies, Frameshift Mutation, Humans, Mutation, Transcription Factors, Polyendocrinopathies, Autoimmune genetics
- Abstract
Background : Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare inborn immune error characterized by a triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (ADI). Methods : Literature search was conducted in PubMed, Web of Science, and Scopus databases using related keywords, and included studies were systematically evaluated. Results : We reviewed 938 APECED patients and the classic triad of APECED was detected in 57.3% (460 of 803) of patients. CMC (82.5%) was reported as the earliest, HP (84.2%) as the most prevalent, and ADI (72.2%) as the latest presentation within the classic triad. A broad spectrum of non-triad involvements has also been reported; mainly included ectodermal dystrophy (64.5%), infections (58.7%), gastrointestinal disorders (52.0%), gonadal failure (42.0%), neurologic involvements (36.4%), and ocular manifestations (34.3%). A significant positive correlation was detected between certain tissue-specific autoantibodies and particular manifestations including ADI and HP. Neutralizing autoantibodies were detected in at least 60.0% of patients. Nonsense and/or frameshift insertion-deletion mutations were detected in 73.8% of patients with CMC, 70.9% of patients with HP, and 74.6% of patients with primary ADI. Conclusion : Besides penetrance diversity, our review revealed a diverse affected ethnicity (mainly from Italy followed by Finland and Ireland). APECED can initially present in adolescence as 5.2% of the patients were older than 18 years at the disease onset. According to the variety of clinical conditions, which in the majority of patients appear gradually over time, clinical management deserves a separate analysis.
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- 2021
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21. Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency.
- Author
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Dmeńska H, Pac M, Skomska-Pawliszak M, Pietrucha B, Wolska-Kuśnierz B, Piątosa B, Komarnicka J, and Heropolitańska-Pliszka E
- Subjects
- Adolescent, B-Lymphocytes immunology, Bronchiectasis diagnostic imaging, Candidiasis, Chronic Mucocutaneous diagnostic imaging, Candidiasis, Chronic Mucocutaneous genetics, Female, Humans, Tomography, X-Ray Computed, B-Lymphocytes metabolism, Bronchiectasis genetics, Bronchiectasis metabolism, Candidiasis, Chronic Mucocutaneous metabolism, STAT1 Transcription Factor metabolism
- Abstract
Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 defi-ciency is characterized by CMC, repeated infections, and autoimmunity. It is the most frequently diagnosed entity in a group of PIDs with CMC. Here, we present the first Polish case of a female patient with early-onset bronchiestasis accompanied by CMC and a severe course of infections who was genetically diagnosed with AD GOF1 STAT1 mutation at the age of 15.
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- 2020
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22. Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas.
- Author
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Marczak H, Heropolitańska-Pliszka E, Langfort R, Roik D, and Grzela K
- Subjects
- Child, Granuloma complications, Granuloma therapy, Humans, Lung Neoplasms complications, Lung Neoplasms therapy, Male, Nijmegen Breakage Syndrome complications, Nijmegen Breakage Syndrome therapy, Granuloma diagnostic imaging, Lung Neoplasms diagnostic imaging, Nijmegen Breakage Syndrome diagnostic imaging
- Abstract
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease characterized by microcephaly, growth retardation, severe immunodeficiency, and predisposition to lymphoid malignancy. In this report, we describe a case of a 9-year-old boy, previously diagnosed with NBS and symptoms of dyspnea, dry cough, and fever. Despite initial recognition of pneumonia, there was no response to broad spectrum antimicrobial treatment, negative results from microbiological tests, and unclear changes in lung imaging were observed. Therefore, further diagnostics were focused on suspected lymphoid malignancy and involved lung biopsy. Unexpectedly, histopathological examination revealed noncaseating granulomas. The introduction of systemic steroids resulted in significant improvement of the patient's clinical condition. This is the first description of primary pulmonary noncaseating granulomas without nodular involvement in a child with NBS., Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2018 by the American Academy of Pediatrics.)
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- 2018
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23. Vitamin D deficiency in children with recurrent respiratory infections, with or without immunoglobulin deficiency.
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Dąbrowska-Leonik N, Bernatowska E, Pac M, Filipiuk W, Mulawka J, Pietrucha B, Heropolitańska-Pliszka E, Bernat-Sitarz K, Wolska-Kuśnierz B, and Mikołuć B
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Recurrence, Respiratory Tract Infections blood, Seasons, Vitamin D blood, Vitamin D Deficiency blood, Immunoglobulins deficiency, Respiratory Tract Infections complications, Vitamin D Deficiency complications
- Abstract
Purpose: The objective of this study was to evaluate thevitamin D concentration in patients with recurrent respiratory infections with or without immunoglobulin G, A or M (IgG, IgA, IgM) deficiency, and to find a correlation between the vitamin D concentration and the response to hepatitis B vaccination., Materials and Method: The study involved 730 patients with recurrent respiratory infections. The concentration of 25-hydroxyvitamin D (25(OH)D), immunoglobulins G, A and M, anti-HBs was determined., Results: The tests showed that 11% of patients presented IgG levels below the age related reference values. Children with reduced IgG concentration were also found to have significantly lower vitamin D concentrations in comparison to children with normal IgG. Vitamin D deficiency was observed in schoolchildren between 7 and 18 years of age. No correlation was found between 25(OH)D concentration and Hbs antibody levels., Conclusions: An investigation of a large group of patients who have recurrent infection found patients with IgG deficiency to whom special proceeding have to be performed: 1. Significantly lower vitamin D concentration observed in the group of children with IgG deficiency implicated in long-lasting monitoring of vitamin D level require adding to the practice guidelines for Central Europe 2013. 2. Intervention treatment with suitable doses of vitamin D to clarified metabolism of vitamin D has to be plan for children with IgG deficiency and significant lower vitamin D concentration., (Copyright © 2017 Medical University of Bialystok. Published by Elsevier B.V. All rights reserved.)
- Published
- 2018
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24. Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.
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Pietrucha B, Heropolitańska-Pliszka E, Geffers R, Enßen J, Wieland B, Bogdanova NV, and Dörk T
- Abstract
Germline mutations in the RING finger protein gene RNF168 have been identified in a combined immunodeficiency disorder called RIDDLE syndrome. Since only two patients have been described with somewhat different phenotypes, there is need to identify further patients. Here, we report on two Polish siblings with RNF168 deficiency due to homozygosity for a novel frameshift mutation, c.295delG, that was identified through exome sequencing. Both patients presented with immunoglobulin deficiency, telangiectasia, cellular radiosensitivity, and increased alpha-fetoprotein (AFP) levels. The younger sibling had a more pronounced neurological and morphological phenotype, and she also carried an ATM gene mutation in the heterozygous state. Immunoblot analyses showed absence of RNF168 protein, whereas ATM levels and function were proficient in lymphoblastoid cells from both patients. Consistent with the absence of RNF168 protein, 53BP1 recruitment to DNA double-strand breaks (DSBs) after irradiation was undetectable in lymphoblasts or primary fibroblasts from either of the two patients. γH2AX foci accumulated normally but they disappeared with significant delay, indicating a severe defect in DSB repair. A comparison with the two previously identified patients indicates immunoglobulin deficiency, cellular radiosensitivity, and increased AFP levels as hallmarks of RNF168 deficiency. The variability in its clinical expression despite similar cellular phenotypes suggests that some manifestations of RNF168 deficiency may be modified by additional genetic or epidemiological factors.
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- 2017
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25. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
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Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S, Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG, Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, Drabko K, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, and Bernatowska E
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Chromosomal Instability, Female, Humans, Immunologic Deficiency Syndromes, Infant, Lymphoma, Non-Hodgkin, Male, Microcephaly, Nijmegen Breakage Syndrome genetics, Nijmegen Breakage Syndrome therapy, Prognosis, Retrospective Studies, Young Adult, Hematopoietic Stem Cell Transplantation, Nijmegen Breakage Syndrome diagnosis, Time Factors
- Abstract
Purpose: Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to assess whether any parameters were useful in disease prognosis, and could help determine patients qualified for hematopoietic stem cell transplantation., Methods: The clinical and immunological characteristics of 149 NBS patients registered in the online database of the European Society for Immune Deficiencies were analyzed., Results: Of the 149 NBS patients, 91 (61%), of median age 14.3 years, remained alive at the time of analysis. These patients were clinically heterogeneous, with variable immune defects, ranging from negligible to severe dysfunction. Humoral deficiencies predisposed NBS patients to recurrent/chronic respiratory tract infections and worsened long-term clinical prognosis. Eighty malignancies, most of lymphoid origin (especially non-Hodgkin's lymphomas), were diagnosed in 42% of patients, with malignancy being the leading cause of death in this cohort. Survival probabilities at 5, 10, 20 and 30 years of age were 95, 85, 50 and 35%, respectively, and were significantly lower in patients with than without malignancies., Conclusions: The extremely high incidence of malignancies, mostly non-Hodgkin's lymphomas, was the main risk factor affecting survival probability in NBS patients. Because treatment of NBS is very difficult and frequently unsuccessful, the search for an alternative medical intervention such as hematopoietic stem cell transplantation is of great clinical importance.
- Published
- 2015
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26. Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation.
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Piątosa B, Pac M, Siewiera K, Pietrucha B, Klaudel-Dreszler M, Heropolitańska-Pliszka E, Wolska-Kuśnierz B, Dmeńska H, Gregorek H, Sokolnicka I, Rękawek A, Tkaczyk K, and Bernatowska E
- Subjects
- Adolescent, Age of Onset, Blood Circulation, Cell Differentiation, Cell Separation, Child, Child, Preschool, Common Variable Immunodeficiency immunology, Diagnostic Tests, Routine, Disease Progression, Female, Flow Cytometry, Follow-Up Studies, Humans, Male, Prognosis, Risk, Sex Factors, B-Lymphocyte Subsets immunology, B-Lymphocytes immunology, Common Variable Immunodeficiency diagnosis, Common Variable Immunodeficiency epidemiology
- Abstract
Common variable immune deficiency (CVID) is a heterogeneous disease associated with ineffective production of antibodies. It is usually diagnosed in adulthood, but a variable proportion of children develop CVID. Early identification of patients with potentially worse prognosis may help to avoid serious complications. The goal of this study was to associate the clinical phenotype of patients with early onset CVID with peripheral B-cell maturation profile. Four color flow cytometry was used to define distribution of peripheral B-cell subsets in 49 children with early-onset CVID. All clinical data were extracted from medical records. A proportion of patients demonstrated diminishing with time total B-lymphocytes pool, beyond physiological age-related changes. Irrespective from duration of the follow-up period the B-cell maturation profile in individual patients remained unchanged. We identified six different aberrant peripheral B cell maturation profiles associated with different clinical characteristics. Patients with an early B-cell maturation block earlier required replacement therapy and were at significantly greater risk of enteropathy, granuloma formation, cytopenia, and lymphoproliferation. B-cell maturation inhibited at the natural effector stage was associated with higher risk of autoimmune manifestations other than autoimmune cytopenia. Prevalence of male patients was observed among patients with B-cell maturation inhibited at naïve B-cell stage. In conclusion, the diagnostic process in patients with suspected early-onset CVID shall include routine analysis of peripheral B-cell maturation to provide surrogate markers identifying patients at greater risk of developing certain complications.
- Published
- 2013
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27. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
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Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, and Grimbacher B
- Subjects
- Adolescent, Adult, Cell Separation, Child, Child, Preschool, Enzyme-Linked Immunosorbent Assay, Female, Flow Cytometry, Humans, Immunoglobulin E blood, Infant, Interleukin-17 immunology, Job Syndrome immunology, Male, Middle Aged, Mutation, Polymerase Chain Reaction, Practice Guidelines as Topic, T-Lymphocytes, Helper-Inducer immunology, Young Adult, Job Syndrome diagnosis, Job Syndrome genetics, STAT3 Transcription Factor genetics
- Abstract
Background: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells., Objective: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients., Methods: We collected clinical data, determined T(H)17 cell numbers, and sequenced STAT3 in 100 patients with a strong clinical suspicion of HIES and serum IgE >1000 IU/mL. We explored diagnostic criteria by using a machine-learning approach to identify which features best predict a STAT3 mutation., Results: In 64 patients, we identified 31 different STAT3 mutations, 18 of which were novel. These included mutations at splice sites and outside the previously implicated DNA-binding and Src homology 2 domains. A combination of 5 clinical features predicted STAT3 mutations with 85% accuracy. T(H)17 cells were profoundly reduced in patients harboring STAT3 mutations, whereas 10 of 13 patients without mutations had low (<1%) T(H)17 cells but were distinct by markedly reduced IFN-gamma-producing CD4(+)T cells., Conclusion: We propose the following diagnostic guidelines for STAT3-deficient HIES. Possible: IgE >1000IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate. Probable: These characteristics plus lack of T(H)17 cells or a family history for definitive HIES. Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3., (Copyright 2010 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.)
- Published
- 2010
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28. Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation.
- Author
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Pietrucha BM, Heropolitańska-Pliszka E, Wakulińska A, Skopczyńska H, Gatti RA, and Bernatowska E
- Subjects
- Cerebellar Ataxia, Child, Preschool, Fatal Outcome, Female, Humans, Wilms Tumor etiology, Ataxia Telangiectasia complications, Ataxia Telangiectasia diagnosis, Hyper-IgM Immunodeficiency Syndrome etiology, Radiotherapy mortality, Wilms Tumor radiotherapy
- Abstract
Summary: Ataxia-telangiectasia is an autosomal recessive disorder caused by mutation in the ATM gene. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasiae, cancer susceptibility, and variable humoral and cellular immunodeficiency. We report a patient who, because of the pattern of her immunodeficiency, was primarily diagnosed as an autosomal recessive hyper-IgM syndrome. Only a mild cerebellar ataxia was present at the age of 7 years then she developed a Wilms tumor (nephroblastoma). Conventional radiotherapy for the malignancy led to fatal consequences. Postmortem studies confirmed diagnosis of ataxia-telangiectasia.
- Published
- 2010
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29. [Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review].
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Heropolitańska-Pliszka E, Pietrucha B, Mikołuć B, and Bernatowska E
- Subjects
- Adult, Humans, Male, Job Syndrome diagnosis, Job Syndrome genetics, Mutation, STAT3 Transcription Factor genetics
- Abstract
Hyper-IgE syndrome (HIES) is a primary immunodeficiency (PID) characterized by recurrent skin abscesses (S. aureus), recurrent pneumonia with pneumatocele formation, atopic dermatitis and elevated levels of serum IgE (>2000 IU/ml). HIES is a sporadic disease, however, two distinct entities - classic HIES inherited in an autosomal dominant pattern (AD HIES), and an autosomal recessive HIES (AR HIES) have been described. Some cases of AD HIES with predominant pulmonary manifestation are caused by mutation in STAT3 gene. It is important to differentiate cases of atopic dermatitis and AD HIES where it is necessary to implement antibacterial and antifungal prophylaxis. Opportunity of performing genetic analysis in suspicion of AD HIES leads to definitive diagnosis of the disease and earlier institution of appropriate treatment. We present the case of a 22-year-old patient with typical course of autosomal dominant hyper-IgE syndrome, confirmed in the Royal Free Hospital, University College London, UK, by finding mutation in STAT3 gene.
- Published
- 2009
30. [Prevention of infections in primary and secondary antibody deficiency].
- Author
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Mikołuć B, Pietrucha B, Motkowski R, Wolska-Kuśnierz B, Heropolitańska-Pliszka E, and Bernatowska E
- Subjects
- Autoimmune Diseases immunology, Diagnosis, Differential, Disease Susceptibility, Health Education methods, Humans, IgA Deficiency immunology, IgG Deficiency immunology, Immunoglobulins, Intravenous therapeutic use, Immunologic Deficiency Syndromes complications, Immunologic Deficiency Syndromes prevention & control, Infections therapy, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes therapy, Infections immunology
- Abstract
Antibody deficiency may have genetic basis or be secondary to other diseases or iatrogenic factors. Recurrent respiratory, gastrointestinal and skin infections consist on the most frequent clinical picture. Severe course of these infections, recurrences and difficulties in treatment may suggest immunodeficiency. Antibody deficiency may be associated with numerous complications. Intravenous or subcutaneous immunoglobulin substitution is the way of treating these patients. Prevention of infection in primary and secondary antibody deficiency also includes vaccinations, prophylaxis with antibiotics and education of patients, parents and caregivers.
- Published
- 2009
31. [Diagnosis and treatment of aspergillosis in the patients with chronic granulomatous disease].
- Author
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Kurenko-Deptuch M, Wolska-Kuśnierz B, Heropolitańska-Pliszka E, Klaudel-Dreszler M, Pac M, Pietrucha B, Garczewska B, and Bernatowska E
- Subjects
- Antifungal Agents therapeutic use, Aspergillosis microbiology, Aspergillus fumigatus isolation & purification, Aspergillus nidulans isolation & purification, Child, Enzyme-Linked Immunosorbent Assay, Granulomatous Disease, Chronic microbiology, Humans, Polymerase Chain Reaction, Aspergillosis diagnosis, Aspergillosis drug therapy, Granulomatous Disease, Chronic complications
- Abstract
Chronic granulomatous disease is a rare defect of phagocytosis. Increased susceptibility to infections is limited to catalase positive bacteria and fungi. Aspergillus spp was reported as the increased clinical problem and the main cause of the deaths.
- Published
- 2006
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