Lucia Pacillo
@virgilio.it
RESEARCH INTERESTS
Immunology
Pediatrics
Scopus Publications
- Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome
Cristina Cifaldi, Lucia Pacillo, Chiara Rossetti, Silvia Di Cesare, Michele La Manna, Veronica Santilli, Beatrice Rivalta, Elisabetta Lembo, Mattia Moratti, Lucia Colucci, Gigliola Di Matteo, Paolo Palma, Federica Pulvirenti, Emma Concetta Manno, Giuseppe Palumbo, Donato Amodio, Caterina Cancrini
Frontiers in Immunology, 2026
Introduction Chromosome 22q11.2 deletion syndrome (22q11DS) presents a wide variability of phenotypic features, including different grades of immune dysfunctions, leading to increased susceptibility to infections, autoimmune diseases and atopy. The most common autoimmune manifestation in 22q11DS patients is immune thrombocytopenia (ITP), which is often relapsing and refractory to standard therapy. Methods We present a cohort of four pediatric/adolescents 22q11DS patients presenting with refractory ITP, treated with low dosage Mycophenolate Mofetil (MMF) for more than 24 months. We performed complete deep longitudinal immunological investigations by multiparametric flow cytometry, and monitored blood counts as well as EBV viremia. Results All four patients didn’t experience any relapse since the beginning of MMF therapy. Three out of four showed a complete remission with PLT > 100000/uL. All the patients presented immunological features reported to be associated with immunodysregulation: reduced naïve CD4+T cells and memory B cells, increased cTfh cells and reduced Treg cells frequency. During MMF treatment we detected a decrease in cTfh frequency and a reduction in PD-1 expression along with a moderate recovery of regulatory T cells. Discussion MMF treatment was associated with sustained platelet stabilization in this cohort. Specific immunological biomarkers could help monitor treatment response, guide clinicians in selecting targeted therapies and may be used to monitor the response to therapy over time. - Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders
Fabio Cardinale, Ivan Taietti, Mayla Sgrulletti, Lucia Pacillo, Viviana Moschese, Caterina Cancrini, Raffaele Badolato, Michele Miraglia del Giudice, Gian Luigi Marseglia, Elena Chiappini, Riccardo Castagnoli, , and
Pediatric Allergy and Immunology, 2025
Background Primary Atopic Disorders (PAD) represent a recently recognized subset of inborn errors of immunity (IEI), characterized by severe atopy driven by genetic mutations leading to dysregulated type 2 immune responses, excessive mast cell activation, and hyper production of IgE. In PAD patients, severe atopic manifestations, including eczema, asthma, food allergies, and eosinophilic gastrointestinal disorders, are often associated with other signs of immune dysfunction. Methods Recognizing the need for standardized diagnostic and management guidelines for PAD, a Delphi‐based expert consensus was developed within the Immunology Committee of the Italian Society of Pediatric Allergy and Immunology (SIAIP). After a systematic review of the literature and the development of the clinical statements, 45 specialists from multiple pediatric subspecialties reached an agreement on key aspects of PAD classification, diagnosis, and treatment. Results The consensus focuses on some red flags that could aid clinicians in suspecting PAD. The document also proposes a diagnostic work‐up to differentiate monogenic PAD from polygenic allergic conditions. It also emphasizes the importance of molecular pathway analysis to direct precision treatments, including biological drugs. Given the complexity of the field and the potential overlap between PAD and other IEI, the consensus recommends a multidisciplinary approach to diagnosis and treatment. The document establishes a framework for early recognition of PAD, integrating emerging genetic insights into clinical practice and promoting personalized therapeutic strategies. Conclusions The present work is the first structured consensus to standardize PAD diagnosis and management among pediatric subspecialists, aiming to improve patient outcomes through early intervention and tailored therapies. - Safety of Nirmatrelvir-Ritonavir Administration in Children With Immunodeficiency and/or Comorbidities With SARS-CoV-2 Infection: A Retrospective Clinical Report
Stefania Bernardi, Marco Roversi, Antonio Torelli, Antonio Musolino, Emanuele Nicastri, Paolo Palma, Paolo Rossi, Leonardo Vallesi, Tiziana Corsetti, Laura Lancella, Barbarella Lucarelli, Federica Galaverna, Alberto Villani, Carlo Federico Perno, Massimiliano Raponi, and
Pediatric Infectious Disease Journal, 2025
Introduction: Despite the generally mild course of COVID-19 in children, immunocompromised patients may experience complications or severe infection. This study reports the clinical outcomes of pediatric patients treated with nirmatrelvir and ritonavir (N/R) for SARS-CoV-2 infection. Methods: We retrospectively reported the data of children with any immunodeficiency with COVID-19 who received N/R treatment between March 2022 and June 2023 at the Bambino Gesù Children’s Hospital. Patients were treated with N/R for 5 days. We compared liver and kidney function before and after treatment with N/R and looked for a relationship between the duration of COVID-19 infection and the time from positivity to administration of N/R administration. Results: A total of 85 pediatric immunocompromised patients with COVID-19 were included in the study, with a mean age of 10.7 years (SD 4.8), mostly males (60%). We found a significant difference in the viral load before and after N/R administration. Four patients (4.7%) experienced adverse events related to N/R therapy. One of these had to discontinue N/R administration. Three patients (3.5%) experienced negative effects of drug interactions during N/R therapy, namely an increase of sirolimus and ciclosporin serum levels. A significant positive correlation was found between the time from SARS-CoV-2 positivity to N/R administration and the duration of SARS-CoV-2 swab positivity (R = 0.78, P < 0.001), suggesting that the earlier N/R is administered, the shorter the duration of COVID-19 in the study sample. Conclusion: Our experience shows that N/R is reasonably safe in the pediatric population and could favor viral clearance, thus reducing the duration of infection. - Pre-vaccination immune markers predict response to BNT162b2 mRNA vaccine in vulnerable groups – The CONVERS project, report from a pediatric tertiary hospital
Nicola Cotugno, Marco Sanna, Donato Amodio, Elena Morrocchi, Chiara Pighi, Chiara Medri, Giuseppe Rubens Pascucci, Veronica Santilli, Emma Concetta Manno, Paola Zangari, Chiara Rossetti, Nicole Colantoni, Giulio Olivieri, Elena Emili, Alessia Neri, Arianna Rotili, Paolo Rossi, Ofer Levy, Lorenza Putignani, Paolo Palma, Lorenza Romani, Andrea Finocchi, Caterina Cancrini, Viviana Moschese, Mayla Sgrulletti, Laura Lancella, Stefania Bernardi, Maia De Luca, Carmela Giancotta, Luna Colagrossi, Francesco Bonfante, Elisa Profeti, Enrica Franzese, Antonino Amodeo, Carlo Federico Perno, Marta Ciofi Degli Atti, Carlo Plebani, Carlo Giaquinto, Diletta Valentini, Alberto Villani, Paola De Angelis, Francesca Rea, Renato Tambucci, Beatrice Rivalta, Lucia Pacillo, Gioacchino Andrea Rotulo
Vaccine, 2025
BACKGROUND: Whereas several studies have demonstrated the long-term immunogenicity of BNT162b2 vaccine in healthy adults, little evidence was provided in vulnerable populations (VPs) with generally low ability to respond to immunizations. We aimed to identify pre-vaccination immune phenotype and transcriptional signatures in B and T-cell subsets associated with immune response and long-term maintenance upon SARS-CoV-2 vaccination in VPs. METHODS: A cohort of VPs (N = 169) including solid organ transplant recipients (SOT; N = 35), Inflammatory Bowel Disease (N = 31), Down Syndrome (N = 42), people living with HIV (N = 36), primary immune deficiencies (N = 25) and healthy controls (N = 37) were enrolled in the CONVERS Study. SARS-CoV-2 Vaccine responsiveness was evaluated by SARS-CoV-2-specific Ab and SARS-CoV-2-specific CD4+ T cells in VPs naive to infection or vaccination. Based on the humoral response at T28, individuals were classified as Protected (P: anti-spike antibody [anti-S] titer ≥0.8) and Not-Protected (NP: anti-S titer <0.8). Peripheral blood mononuclear cells, after SARS-CoV-2 Prot-S peptides stimulation were sort-purified in four cell subsets and analyzed by multiplexed RT-PCR (Fluidigm, Biomark). RESULTS: SOT presented a significantly lower serological immunogenicity with 31 % of individuals being NP at T28 whereas only 1 out of the remaining 119 resulted Ab negative at T28. At T0, NP individuals showed a lower increase of Ag specific CD40L+ T cells and lower switched memory B cells compared to P patients. Gene-expression analysis revealed distinct signatures at baseline between P and NP individuals with 63 and 49 DEGs identified in two experimental conditions, respectively unstimulated and stimulated. CONCLUSIONS: Pre-vaccination B and T-cell characteristics at both phenotypic and gene- expression level correlate with short- and long- term memory maintenance in VPs with lower immunogenicity upon BNT162b2 vaccine. Such signatures need to be validated in larger cohorts and may provide a predictive score to inform personalized and more effective vaccine interventions. - Allergic Manifestations of Inborn Errors of Immunity
Viviana Moschese, Emilia Cirillo, Giorgio Costagliola, Simona Graziani, Maria Felicia Mastrototaro, Lucia Pacillo, Caterina Cancrini, Baldassarre Martire
Textbook of Pediatric Allergy, 2025 - Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): An externally controlled study
John Whalen, Anita Chandra, Sven Kracker, Stephan Ehl, Markus G Seidel, Ioana Gulas, Louis Dron, Russanthy Velummailum, Chenthila Nagamuthu, Sichen Liu, Joanne Tutein Nolthenius, Maria Elena Maccari
Clinical and Experimental Immunology, 2025
Leniolisib, an oral, targeted phosphoinositide 3-kinase delta (PI3Kδ) inhibitor, was well-tolerated and efficacious versus placebo in treating individuals with activated PI3Kδ syndrome (APDS), an ultra-rare inborn error of immunity (IEI), in a 12-week randomised controlled trial. However, longer-term comparative data versus standard of care are lacking. This externally controlled study compared the long-term effects of leniolisib on annual rate of respiratory tract infections and change in serum immunoglobulin M (IgM) levels versus current standard of care, using data from the leniolisib single-arm open-label extension study 2201E1 (NCT02859727) and the European Society for Immunodeficiencies (ESID) registry. The endpoints were chosen following feasibility assessment considering comparability and availability of data from both sources. Baseline characteristics between groups were balanced through inverse probability of treatment weighting. The leniolisib-treated group included 37 participants, with 62 and 49 participants in the control group for the respiratory tract infections and serum IgM analyses, respectively. Significant reductions in the annual rate of respiratory tract infections (rate ratio: 0.34; 95% confidence interval [CI]: 0.19, 0.59) and serum IgM levels (treatment effect: –1.09 g/L; 95% CI: –1.78, –0.39, P = 0.002) were observed in leniolisib-treated individuals versus standard of care. The results were consistent across all sensitivity analyses, regardless of censoring, baseline infection rate definition, missing data handling, or covariate selection. These novel data provide an extended comparison of leniolisib treatment versus standard of care, highlighting the potential for leniolisib to deliver long-term benefits by restoring immune system function and reducing infection rate, potentially reducing complications and treatment burden. - Actinomyces timonensis A Novel Pathogen to Not Overlook in Immunocompetent Children With Recurrent Cutaneous Abscesses
Enrica Franzese, Gioacchino Andrea Rotulo, Donato Amodio, Emma Concetta Manno, Paola Zangari, Beatrice Rivalta, Lucia Pacillo, Veronica Santilli, Paola Bernaschi, Carlo Federico Perno, Paolo Rossi, Paolo Palma, Nicola Cotugno
Pediatric Infectious Disease Journal, 2024
To the Editors: Actinomyces timonensis is a newly identified species of the genus Actinomyces, first isolated from a 13-year-old girl with sacroiliitis.1 To date, no other human isolations have been reported. We present a case of recurrent cutaneous abscesses due to A. timonensis in a previously healthy 2-year-old girl, describing clinical management, follow-up and microbiology workup. She presented with a 5-month history of recurrent cutaneous abscesses despite multiple antibiotics. Born at 41 weeks via cesarean, her neonatal period was uneventful, and she had no significant past infections requiring hospitalization. The family history was negative for serious illnesses. One month before our assessment, she required surgical drainage for a subcutaneous mass in the left cervical region, followed by antibiotics (amoxicillin-clavulanate and cefixime). She was afebrile and systemically well; physical examination revealed multiple furuncles on chest and neck, impetiginized scalp lesions and cutaneous infections on her fingers (Fig. 1).FIGURE 1.: Recurrent abscesses in a immunocompetent child. A, B, and C: Patient before the treatment was carried out at our center. D: Resolution of the patient’s lesions at the end of the treatment.Blood tests were normal, with an initially elevated total IgE level (1434 kU/L), which later decreased. Immunologic investigations, including IgA, IgM, IgG and IgG subclasses, antibody titers to tetanus, Haemophilus influenzae, serotypes in the protein-conjugated pneumococcal vaccine and HIV tests were negative. Immune phenotype, natural killer cell function tests, nitroblue tetrazolium test and the dihydrorhodamine assay were normal. Culture analysis of the lesion swab revealed A. timonensis, identified with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Tests for Mycobacterium tuberculosis and nontuberculous mycobacteria were negative. The patient was initially treated with teicoplanin and later switched to meropenem based on susceptibility testing, followed by clindamycin. Skin lesions improved and resolved completely, with no recurrence over a 1-year follow-up. This is the first case of recurrent cutaneous abscesses due to A. timonensis in an immunocompetent child. Indeed, A. timonensis in children was isolated only from a 13-year-old girl with sacroiliitis.1 Actinomycosis is a slowly progressive bacterial infection caused by Actinomyces, rare in pediatric patients and often misdiagnosed. Actinomyces is a normal commensal in the human oropharynx, gastrointestinal and urogenital tracts, becoming pathogenic when mucous membranes are compromised. Cervicofacial actinomycosis is the most common form, associated with gingival disease, oral trauma, dental caries or immunocompromised states.2–4 Appropriate treatment typically requires prolonged intravenous antibiotics.5 Treatment details in the previously documented case of A. timonensis infection were not reported.1 Our patient received 3 weeks of intravenous antibiotics followed by 2 weeks of oral therapy, leading to resolution. The antibiotic regimen was based on susceptibility tests showing sensitivity to clindamycin, meropenem, penicillin G, piperacillin-tazobactam and vancomycin but resistance to metronidazole. No predisposing conditions including trauma, dental abnormalities or primary and acquired immunodeficiencies were found in our patient. In addition, oral swabs for A. timonensis were always negative. This case highlights the importance of considering actinomycosis in cases of subacute or chronic skin infections unresponsive to standard antibiotics, even in immunocompetent children. Prompt and accurate diagnosis is crucial for appropriate treatment and preventing recurrence or spread. Further studies are needed to understand effective treatment strategies for A. timonensis, given the scarcity of documented cases and antibiotic resistance data. - A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID
Daniela Cesana, Maria Pia Cicalese, Andrea Calabria, Pietro Merli, Roberta Caruso, Monica Volpin, Laura Rudilosso, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Francesco Gazzo, Simone Pizzi, Andrea Ciolfi, Alessandro Bruselles, Francesca Tucci, Giulio Spinozzi, Giulia Pais, Fabrizio Benedicenti, Matteo Barcella, Ivan Merelli, Pierangela Gallina, Stefania Giannelli, Francesca Dionisio, Serena Scala, Miriam Casiraghi, Luisa Strocchio, Luciana Vinti, Lucia Pacillo, Eleonora Draghi, Marcella Cesana, Sara Riccardo, Chiara Colantuono, Emmanuelle Six, Marina Cavazzana, Filippo Carlucci, Manfred Schmidt, Caterina Cancrini, Fabio Ciceri, Luca Vago, Davide Cacchiarelli, Bernhard Gentner, Luigi Naldini, Marco Tartaglia, Eugenio Montini, Franco Locatelli, Alessandro Aiuti
Nature Communications, 2024
Hematopoietic stem cell gene therapy (GT) using a γ-retroviral vector (γ-RV) is an effective treatment for Severe Combined Immunodeficiency due to Adenosine Deaminase deficiency. Here, we describe a case of GT-related T-cell acute lymphoblastic leukemia (T-ALL) that developed 4.7 years after treatment. The patient underwent chemotherapy and haploidentical transplantation and is currently in remission. Blast cells contain a single vector insertion activating the LIM-only protein 2 (LMO2) proto-oncogene, confirmed by physical interaction, and low Adenosine Deaminase (ADA) activity resulting from methylation of viral promoter. The insertion is detected years before T-ALL in multiple lineages, suggesting that further hits occurred in a thymic progenitor. Blast cells contain known and novel somatic mutations as well as germline mutations which may have contributed to transformation. Before T-ALL onset, the insertion profile is similar to those of other ADA-deficient patients. The limited incidence of vector-related adverse events in ADA-deficiency compared to other γ-RV GT trials could be explained by differences in transgenes, background disease and patient’s specific factors. - Use of dupilumab for atopic dermatitis in pediatric and young adult patients with inborn errors of immunity
Paola Zangari, Carmela Giancotta, Lucia Pacillo, Nicole Colantoni, Fabrizio Leone, Donato Amodio, Veronica Santilli, Emma Concetta Manno, Nicola Cotugno, Beatrice Rivalta, Gioacchino Andrea Rotulo, Silvia Di Cesare, Andrea Diociaiuti, May El Hachem, Caterina Cancrini, Andrea Finocchi, Paolo Palma
Pediatric Allergy and Immunology, 2024
Inborn errors of immunity (IEIs) are inherited disorders characterized by defects in both innate and adaptive immunity. More than 450 distinct defects are described in the 2022 classification of the International Union of Immunological Societies (IUIS).1 IEIs present with a variety of symptoms. The hallmark is recurrent and severe infections often treated with intravenous and/or prolonged antibiotic therapy. Patients with IEIs also commonly experience immune dysregulation manifestations such as autoimmune and inflammatory diseases, and increased susceptibility to cancer and atopy.2 Among atopic manifestations dermatitis, asthma, and food allergies are the most frequently observed. Atopic dermatitis (AD) in IEIs typically manifests with early onset, a recurrent or relapsing course, and a poor response to conventional medical therapy. Dermatitis is characterized by intense itching, dry skin, erythematous lesions, erosions, and exudation. In the chronic phase, lichenification may occur. Preserving the integrity of the skin barrier is a key goal in AD therapy. The first-line treatment involves topical therapy such as emollients and corticosteroid anti-inflammatory drugs. Immunosuppressive medications are currently used for moderate to severe AD,3 but they can increase the risk of iatrogenic immunodeficiency. Therefore, prolonged use of steroids is often contraindicated due to adverse events, alterations in the immune system, and an elevated risk of skin infections. Biologics, with their targeted action on specific components or pathways of the immune system, offer a significant advantage and are increasingly recognized as effective and safe treatments for various skin diseases.4 Dupilumab is a chimeric monoclonal antibody that binds to IL-4Rα and decreases IL-4 and IL-13 cytokine-induced responses, including the release of proinflammatory cytokines, chemokines, and IgE. Dupilumab was approved by the Food and Drug Administration (FDA) and European Medicines Agency (EMA) in children aged 6 years and older with moderate to severe AD who have inadequate control with topical therapies and since January 2023, the approval has been expanded to include children 6 months and older with severe AD.5, 6 To be eligible, they must present Eczema Area and Severity Index (EASI) ≥ 24 or one of the following: (1) location in visible and/or sensitive areas such as face/neck and/or hands and/or genitals; (2) evaluation of itching on the numeric rating scale itch intensity (NRS) ≥ 7 scale; (3) quality of life assessment with children's dermatology life quality index (cDLQI) index ≥10. The experience in immunocompromised patients with concomitant atopic manifestations is limited to single case reports.4 Beneficial effects of dupilumab have been described in controlling severe and extensive AD in patients with STAT3 deficiency, ZNF341 AR deficiency, DOCK8 mutation, and CARD11-associated atopy with dominant interference of NF-kB signaling (CADINS) disease. Here, we present six pediatric and young adult patients with IEIs and early onset, moderate to severe and unresponsive AD treated with dupilumab. The clinical and immunological features are summarized in Table 1. NGS panel for IEIs not informative NGS panel for IEIs not informative IgE highest value (kU/L) 26.3 (67% IgM) 27.8 (96% IgM) 4.8 (71% IgM) 5.5 (22% IgM) T cell proliferation (PHA and OKT3) All patients presented moderate to severe AD with a mean EASI score at baseline of 24.8 and failed topical therapy. Subcutaneous injections of dupilumab (Dupixent; Regeneron-Sanofi) were administered in the standard AD dosing regimen. EASI, NRS, and cDLQI for patients aged 4–16 years or DLQI >16 years were recorded for each patient at baseline and at follow-up visits. Peripheral blood samples to evaluate eosinophils and total IgE, serology, and PCR for Herpes virus 1/2, parasitological stool examination, and ophthalmological evaluation were performed before starting therapy and at follow-up visits. Hydrating eye drops were recommended to everyone. We reported a long follow-up visit at Week 24 in five out of six patients and at Week 52 in four out of six. All patients presented moderate to severe AD with elevated Th2 biomarkers (blood eosinophils and/or IgE levels) except for patient 4. In patient 4, we observed high levels of IL-4 and IL-13 at proteomics assay (Olink technology, data not shown), performed in selected cases in order to integrate the cytokine profile with clinical data and strengthen the decision to treat with dupilumab. Four out of six patients have an IEI genetically defined (Table 1). Patient 1 was diagnosed with ARPC1B deficiency, patients 2 and 6 with STAT3 deficiency, and patient 3 with a novel monogenic cause of early onset atopic disease due to STAT6 gain-of-function (GoF) mutation. Patients 4 and 5 have a common variable immunodeficiency (CVID) phenotype and a hyper IgE syndrome (HIES) respectively, with a next-generation sequencing (NGS) panel not informative. In particular, patient 5 presented severe refractory AD associated with food allergies, recurrent respiratory infections, severe asthma, and IgA nephropathy. His immunological phenotype is summarized in Table 1. Furthermore, reduced DOCK8 expression was observed on flow cytometry and western blot analysis in CD19+ cells, but not in CD3+ lymphocytes. DOCK8 variants were not detected by NGS panel and a whole-genome sequencing (WGS) analysis is currently ongoing. We observed a significant clinical improvement in all our patients, already at week 4 follow-up, with a mean change of 10.4 points for EASI, 7 for DLQI, and 5.1 for NRS. We recorded a 50% EASI (EASI-50) improvement at week 16 in 6/6 patients and 75% (EASI-75) at week 24 in 4/5 patients. The NRS score showed a 50% reduction in four out of six patients at Week 4, and cDLQI/DLQI scores decreased by 50% in three out of six patients at Week 4 and in all patients at Week 16 (Figure 1). The drug impacted AD symptom severity with a persistent improvement at subsequent follow-up visits. Patient 4 showed a marked cutaneous improvement until Week 16 and after an upper respiratory tract infection experienced a skin worsening. At Week 16, the levels of IgE exhibited a 50% reduction in 3 out of 6 patients, whereas we did not report significant variations in absolute eosinophil count except in patient 3 that experienced a transient increase (Figure 1). Compared to data from randomized clinical trials in children and adolescents with AD and without immunodeficiency, the impact of the drug on itch reduction seems to be similar while the improvement in severity appears faster in immunocompetent patients with the achievement of EASI-75 at Week 16.7, 8 This may be due to a marked Th2 imbalance in our cases and to other involved immunological pathways not restored by the drug. No serious adverse effects (AEs) have been reported in clinical trials. The most reported side effect in clinical trials, which has also been confirmed in real-life data, is blepharoconjunctivitis.8 In our cohort, dupilumab has been generally well tolerated, except for some mild adverse events. Patient 3, with a history of multiple drug allergies, developed a mild immediate adverse event after the first and second injections of dupilumab. The AE was characterized by moderate respiratory distress and conjunctivitis, which were successfully treated with antihistamines and steroids, resulting in rapid resolution. For this reason, the treatment was initially discontinued, despite an improvement of dermatitis and a reduction of asthma flares. Since the encouraging clinical response, she restarted the treatment after steroid and antihistamine premedication without any new AEs. Patient 5 presented mild conjunctivitis 3 months after starting dupilumab with a temporary drug discontinuation, resolved in 4 weeks. As extensively reported, dupilumab reduces the incidence of skin infections.9 This reduction is attributed to the improvement of skin integrity by decreasing scratching, as well as changes in the cutaneous microbiome and increasing production of antimicrobial peptides triggered by IL-4 blockade, which is a key component of the innate immune system. In our cohort, patient 1 presented two skin abscesses at Week 48 which were successfully treated with systemic antibiotics, and developed new cutaneous warts at Week 52. This patient had a history of recurrent and persistent HPV warts. However, no further lesions appeared in subsequent follow-up visits despite the ongoing therapy. These skin infections were attributed to the concomitant immunosuppressive drug administered for immune dysregulation manifestations. Overall, in our cohort dupilumab has been proven to be effective and safe to treat AD in IEI patients although it does not constitute a definitive therapy for the immunodeficiency. As reported, patient 1 started treatment with dupilumab due to severe refractory AD complicated by recurrent skin infections at 10 years of age. Dupilumab significantly improved both skin rash and itchiness but did not impact on the patient's comorbidities as expected. Considering the combined immunodeficiency, recurrent infections, thrombocytopenia, and multiple manifestations of immune dysregulation, including colitis, vasculitis, and severe dermatitis, associated with eosinophilia, hyper-IgA, and hyper-IgE patient 1 performed hematopoietic stem cell transplantation (HSCT) at 12 years. HSCT led to the successful resolution of immunodeficiency, immunodisysregulation, and autoimmunity and the interruption of immunomodulatory drugs including dupilumab. Thus, dupilumab represents a valid bridge treatment in patients waiting for HSCT, in order to control skin infectious and inflammatory complications. Our patients didn't experience severe AEs but, considering comorbidities and the immunocompromised status, a close and careful clinical monitoring is needed. To date, a comprehensive molecular and immunological characterization of AD under long-term IL-4Rα inhibition has not been conducted. This information could be useful for therapeutic decisions and to guide potential tapering strategies in patients receiving dupilumab. Further and larger multicenter studies are needed to evaluate long-term safety and efficacy in this special population. Paola Zangari: Conceptualization; writing – original draft; writing – review and editing; investigation; data curation; resources. Carmela Giancotta: Conceptualization; writing – original draft; writing – review and editing; resources; data curation. Lucia Pacillo: Writing – review and editing; data curation; resources. Nicole Colantoni: Data curation; writing – review and editing. Fabrizio Leone: Data curation; resources. Donato Amodio: Data curation; methodology; investigation; resources; writing – review and editing. Veronica Santilli: Data curation; resources. Emma Concetta Manno: Data curation; writing – review and editing; resources. Nicola Cotugno: Data curation; resources. Beatrice Rivalta: Data curation; resources. Gioacchino Andrea Rotulo: Data curation; resources. Silvia Di Cesare: Investigation; methodology. Andrea Diociaiuti: Data curation; resources. May El Hachem: Data curation; resources. Caterina Cancrini: Data curation; writing – review and editing. Andrea Finocchi: Data curation; writing – review and editing. Paolo Palma: Supervision; writing – review and editing. This work was supported also by the Italian Ministry of Health with Current Research funds. 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. All patients or caregivers gave their informed consent prior to their inclusion in the study. - Epstein–Barr virus-associated smooth muscle tumor in a female with ataxia telangiectasia: A case report
Beatrice Rivalta, Paola Zangari, Lucia Pacillo, Emma Concetta Manno, Veronica Santilli, Gioacchino Andrea Rotulo, Nicola Cotugno, Chiara Rossetti, Silvia Vallese, Maria Giovanna Paglietti, Paolo Tomà, Valerio Pardi, Alessandro Inserra, Paola Francalanci, Giuseppe Maria Milano, Rita Alaggio, Caterina Cancrini, Andrea Finocchi, Paolo Palma, Donato Amodio
Pediatric Blood and Cancer, 2024
To the Editor: Ataxia telangiectasia (AT) is a rare disorder caused by pathogenic variants in the ataxia telangiectasia-mutated (ATM) gene, characterized by progressive neurological involvement, oculocutaneous telangiectasia, variable degrees of immunodeficiency, radiosensitivity and increased susceptibility to tumors.1 The ATM kinase plays a role in detecting DNA lesions and in regulating the cell cycle progression, and its impairment is responsible for the instability of the genome and radiation sensitivity.2 Immunodeficiency may contribute to neoplasms development, particularly those associated with Epstein–Barr virus (EBV). EBV-associated smooth muscle tumor (EBV-SMT) is a rare mesenchymal tumor that generally occurs in immunocompromised individuals. To our knowledge, a single case report of EBV-SMT (laryngeal leiomyosarcoma) has been reported in the literature in a patient with AT.3 We present the case of a 9-year-old Romanian female from consanguineous parents frequently hospitalized for arthritis and pneumonia confirmed by serial chest radiographs. She was admitted to our hospital at the age of 7, for pneumonia and acute respiratory distress syndrome, displaying bulbar telangiectasias, ataxic gait, failure to thrive, and recurrent infections. Immunological evaluation revealed IgA deficiency, reduced naïve CD4 and CD8 T-cell counts, elevated alpha-fetoprotein, and sustained EBV replication (Table 1). Genetic testing identified a homozygous ATM gene deletion (c.8831_8832del).4-6 Both parents and her brother, diagnosed with acute myeloid leukemia, were heterozygous for this variant. Despite initial improvement with antibiotic prophylaxis and immunoglobulin replacement treatment, the patient continued to experience episodes of pneumonia. Clinical deterioration prompted bronchoalveolar lavage confirmed EBV pneumonia, with other microbiological tests negative. In light of persistent EBV replication, the patient received four weekly doses of rituximab. The radiosensitivity required a cautious approach to imaging. However, a computed tomography (CT) scan, considered essential due to the progressive decline in lung function, showed atelectasis in the lower left lobe and multiple bronchiectasis (Figure 1A). Her respiratory symptoms continued to worsen with frequent need for oxygen therapy despite antibiotic and asthma treatment. Lung ultrasound and magnetic resonance imaging (MRI) performed for follow-up showed fibrosis and dystelectasis in the left lower lobe (Figure 1B), leading to a recommendation for lobectomy. The histology of the removed lobe showed congestion and hepatization with extensive bronchial ectasias. Notably, a 1-cm nodular whitish mass was incidentally found (Figure 1D). Microscopic examination revealed a tumor composed of spindle cells with eosinophilic cytoplasm and oval nuclei, arranged in a fascicular pattern within a sparse stromal collagen matrix and accompanied by a lymphocytic infiltrate (Figure 1E). The surrounding lung parenchyma displayed pronounced congestion and severe inflammation, including bronchial abscesses filled with neutrophils, lymphocytic infiltration, and multiple foci of alveolar hemorrhage. The spindle cells were positive for α-smooth muscle actin (α-SMA) and negative for desmin, CD34, anaplastic lymphoma kinase (ALK, D5F3), and CD21. In situ hybridization for EBV-encoded RNA (EBER) was positive in the tumor cells, displaying nuclear localization (Figure 1F,G). These findings were diagnostic of EBV-SMT. Whole-body MRI showed no metastatic lesions or in situ macroscopic recurrence. Respiratory symptoms improved, although residual bronchiectasis persisted in the basal segments of the left lung (Figure 1C). EBV-SMT is a rare neoplasm associated with immunodeficiency, described in patients infected with human immunodeficiency virus (HIV),7 in the post-transplant setting,8 and in those with congenital immunodeficiency.9 It can manifest at any age, but rarely in pediatric patients with primary immunodeficiency. EBV-SMT typically manifests either as a single mass or multiple nodules often found in the liver, but can occur anywhere in the body.10 Although locally aggressive, metastasis are rarely reported.11 To the best of our knowledge, the literature has documented only a single case of EBV-SMT manifesting as laryngeal leiomyosarcoma in an AT patient.11 The case we present is notable for being an instance of pulmonary EBV-SMT. The differential diagnosis initially included inflammatory myofibroblastic tumor, but the presence of a monotypic T-lymphocyte infiltrate and EBER nuclear positivity suggested EBV-SMT. The pathogenesis of EBV-SMT remains a subject of scientific inquiry. The oncogenic role of EBV is well recognized, particularly in hematological malignancies.12, 13 Both EBV infection and immunodeficiency are critical factors in tumor development. In AT, thymic hypoplasia and restricted T-cell receptor repertoire led to T-cell lymphopenia mainly affecting naive T-cell impairing the control of EBV infection, allowing persistence in B cells. Additionally, the ATM protein is involved in the EBV lytic cycle, promoting its replication. However, the mechanism by which ATM mutation enhances EBV's oncogenic potential remains unclear.14 Finally, the intrinsic predisposition to cancer in AT may contribute to the pathogenesis of EBV-SMT.15 Therapeutic approach for EBV-SMT focuses on restoring T-cell function controlling EBV replication including antiretroviral therapy (ART) in HIV patients or reducing immunosuppression after transplant.9 Surgery is required for organ-compromising tumor masses. Despite the rarity of metastasis in EBV-SMT, strict follow-up is essential for timely intervention.16 Sirolimus, an mTOR-inhibitor, offers a potential therapeutic option, though its efficacy remains debated.17 In our AT patient, the coexistence of immunodeficiency (Table 1), EBV active replication, repeated chest x-rays for recurrent pneumonia, along with cancer predisposition and increased radiosensitivity may have collectively contributed to the cancer pathogenesis. In summary, EBV-SMT should be considered in the differential diagnosis of solid tumors, particularly in patients with primary immunodeficiency such as AT. Prompt diagnosis is crucial, as prognosis can be poor without appropriate treatment. We are grateful to patients and their parents, medical staff, and nurses. The authors declare that they have no conflicts of interest. Italian Ministry of Health with “Current Research funds” - Natural history of Ras-associated autoimmune leukoproliferative disorder: A 20-year follow-up of a NRAS-mutated patient excluding a malignant progression
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Journal of Clinical Immunology, 2020
