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Introduction: We report a case of drug-induced liver injury (DILI) induced by cannabis gummies containing Corydalis Rhizome. Case Description/Methods: A 37-year-old female presented to her primary care clinic with recurrent fevers, night sweats, and myalgias for 7 weeks accompanied by eye redness, brain fog, headache, nausea, and abdominal pain. She denied rashes, tick-bites, cough, dyspnea, chest pain, joint swelling, or genitourinary symptoms. Past medical history was notable for IBS, migraines, and anxiety. She reported edible marijuana use four times a week, rare alcohol use, and denied tobacco use. She denied a family history of liver disease. Physical exam was notable for tachycardia to 110 and scleral injection with the remainder of vitals and exam unremarkable. Initial labs were notable for AST 61, ALT 44 and CRP of 12. CBC, BMP, urinalysis, ESR, blood cultures, blood smear for parasite screen, tests for Lyme disease, Babesia, Tularemia, Anaplasma, Ehrlichia, Rickettsia, EBV, HIV, RPR, ANA, CMV, parvovirus B19, and chest x-ray were all negative. The patient was referred to infectious disease with further testing for West Nile, Leptospira, lymphocytic choriomeningitis virus, and COVID-19 returning negative. Repeat LFTs showed worsening transaminitis with ALT 979 and AST 712, alkaline phosphatase 88, total bilirubin 0.7, and albumin 4.9. Hepatitis workup including hepatitis A, B, and C, HSV, EBV, VZV serologies, AMA, ASMA, antiLKM Ab, acetaminophen level, INR, iron panel, CPK, TSH, and abdominal ultrasound were all normal. It was later discovered that her marijuana gummies contained Corydalis rhizome extract known to be hepatotoxic. Cessation of this drug was strongly advised. She was discharged with hepatology follow-up and underwent a liver biopsy showing patchy periportal and lobular inflammation with extension across the limiting plate, hepatocyte injury and apoptosis, and increased lipofuscin for age compatible with mild to moderate hepatitis. She had complete recovery after cessation of Corydalis-containing gummies. (Figure) Discussion: Our patient consumed '1906 Midnight', an American cannabis brand containing Corydalis rhizopus 100 mg, advertised to improve sleep, pain, and have a liver protective effect. A Korean systematic review on herbal-induced liver injury reported that Corydalis was the 3rd most frequent causative herb, with 36 cases. Although there are several personal accounts on social networking sites and other websites, there are no American-based publications reported on DILI from Corydalis. (Table Presented).
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SESSION TITLE: Pathology Under the Microscope SESSION TYPE: Case Reports PRESENTED ON: 10/19/2022 11:15 am - 12:15 pm INTRODUCTION: Rosai-Dorfman disease (RDD) is a rare, idiopathic, nonmalignant lymphohistiocytic proliferative disorder that presents with lymphadenopathy and less commonly with extranodal involvement (1). This is a case of a patient found to have a pulmonary artery mass and bone lesions consistent with RDD. CASE PRESENTATION: A 33-year-old female with COVID pneumonia presented with one week of dyspnea, myalgias, and chills. She developed hypoxia requiring 2L of supplemental oxygen. Physical exam was benign and without lymphadenopathy. CT angiography demonstrated a well circumscribed 2.3cm x 2.1cm eccentric filling defect concerning for a pulmonary embolism versus vascular mass. She had a normal troponin and brain natriuretic peptide. Echocardiogram showed normal left ventricular ejection fraction and right ventricular size and function. Lower extremity dopplers were negative for acute deep venous thrombosis. Cardiac MRI demonstrated a mass in the posterior aspect of the proximal main pulmonary artery superior to the pulmonic valve measuring 1.9cm x 1.6cm that was consistent with a benign cardiac tumor. Patient was discharged and underwent sternotomy and excision of the mass one week later. Pathology showed histiocytosis consistent with RDD. Post-operatively she developed recurrent fevers and imaging showed bony lesions in her lumbar spine, maxilla, and skull base. Pathology from an IR guided biopsy of the lumbar lesion was suggestive of RDD. DISCUSSION: RDD is a rare, nonmalignant lymphohistiocytic proliferative disorder that usually involves lymph nodes. Concurrent nodal and extranodal involvement has been reported in 43% of cases while isolated extranodal involvement has been reported in 23% of cases. Common extranodal sites include cutaneous, soft tissue, upper respiratory tract, bone, and central nervous system (1). There are only a few cases reported of pulmonary artery involvement. These cases include a patient with RDD invading the pulmonary trunk and aorta who required surgical resection and reconstruction due to impending right ventricular failure (2) and a young woman with RDD causing nearly complete obstruction of the main pulmonary artery resulting in severe pulmonary hypertension and heart failure who required debulking (3). This case demonstrates RDD involving the main pulmonary artery and bones which was incidentally discovered when the patient was hospitalized for COVID pneumonia. RDD has a benign course but when the pulmonary artery is involved, patients often require surgical excision. CONCLUSIONS: RDD is a benign proliferation of histiocytes that most commonly presents with cervical lymphadenopathy. Extranodal involvement has been reported but pulmonary artery involvement is rare. RDD has a benign course, but pulmonary arterial involvement often requires surgical excision. Reference #1: Gaitonde, S. (2007). Multifocal, extranodal sinus histiocytosis with massive lymphadenopathy: an overview. Archives of pathology & laboratory medicine, 131(7), 1117-1121. Reference #2: Prendes, B. L., Brinkman, W. T., Sengupta, A. L., & Bavaria, J. E. (2009). Atypical presentation of extranodal Rosai-Dorfman disease. The Annals of thoracic surgery, 87(2), 616-618. Reference #3: Walters, D. M., Dunnington, G. H., Dustin, S. M., Frierson, H. F., Peeler, B. B., Kozower, B. D., … & Lau, C. L. (2010). Rosai-Dorfman disease presenting as a pulmonary artery mass. The Annals of thoracic surgery, 89(1), 300-302. DISCLOSURES: No relevant relationships by Veena Dronamraju Advisory Committee Member relationship with Nabriva Please note: 1 day Added 03/14/2022 by Rohit Gupta, value=Consulting fee No relevant relationships by MARUTI KUMARAN no disclosure on file for Bilal Lashari;No relevant relationships by Parth Rali No relevant relationships by Stephanie Tittaferrante No relevant relationships by Yoshiya Toyoda
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SESSION TITLE: Challenges in Asthma SESSION TYPE: Rapid Fire Case Reports PRESENTED ON: 10/18/2022 10:15 am - 11:10 am INTRODUCTION: Dupilumab is one of the recently developed biological anti-asthma medications which is a human IgG4 monoclonal antibody. Dupliumab inhibits the biological effects of both IL-4 and IL-13. In 2018, Dupilumab was approved for treating moderate to severe asthma with an eosinophilic phenotype or with oral corticosteroid-dependent asthma. Transient, laboratory eosinophilia is a common side effect of Dupilumab, but clinical consequences are hardly ever reported. CASE PRESENTATION: We present a 66-year-old female patient with history of severe persistent asthma with an eosinophil's baseline of 1403 cells/mm3. She was started on Dupilumab a month prior to presenting to our hospital with shortness of breath, facial rash, recurrent fever and fatigue. Upon further investigations, patient was found to have severe peripheral eosinophilia (35%, absolute eosinophil count of 6100 cells/mm3), imaging studies that included CT scan of the chest showed patchy pulmonary consolidations, ground glass opacification and mediastinal lymphadenopathy. Non-invasive infectious work up including COVID-19 was negative. Then, patient underwent fiberoptic bronchoscopy with bronchoalveolar lavage (BAL), transbronchial biopsy, ultrasound guided lymph node fine needle aspiration and endobronchial biopsy (for diffuse endobronchial nodular lesions). Infectious work up from the BAL was negative but the BAL cytology showed eosinophilic alveolitis (31%). Histopathologic examination of the above biopsies showed significant interstitial inflammation with predominant eosinophils. Subsequently, Dupilumab was discontinued, and patient was started on prednisone 60 mg daily with remarkable eosinophils count reduction from a peak of 11,232 to 84 cells/mm3 along with significant improvement in her symptoms. CT chest 8 weeks later showed near complete resolution of pulmonary opacities. DISCUSSION: Dupilumab is an effective treatment for moderate to severe persistent asthma, by lowering rates of asthma exacerbation, as well as better lung function and asthma control. However, it has been reported that dupilumab can rarely cause a state of significant hyper-eosinophilia, which can rarely lead to complications such as eosinophilic pneumonia. Our patient was treated with dupilumab for her severe persistent asthma and after an intensive work up, we reached a diagnosis of severe Dupilumab induced hyper–eosinophilia leading to eosinophilic pneumonia and skin rash. CONCLUSIONS: We believe that this unique report is an important add to the reports in literature as it describes this rare entity in the differential diagnosis. Monitoring serum eosinophils count closely for the first few weeks of treatment with dupilumab should be considered, particularly for patients with unusual high level of eosinophils at baseline, to prevent severe complications. We believe that more studies are needed to better describe dupilumab induced severe hyper–eosinophilia Reference #1: Pelaia, Corrado, et al. "Dupilumab for the treatment of asthma.” Expert opinion on biological therapy 17.12 (2017): 1565-1572 Reference #2: Castro, Mario, et al. "Dupilumab efficacy and safety in moderate-to-severe uncontrolled asthma.” New England Journal of Medicine 378.26 (2018): 2486-2496 Reference #3: Menzella, Francesco, et al. "A case of chronic eosinophilic pneumonia in a patient treated with dupilumab.” Therapeutics and clinical risk management 15 (2019): 869 DISCLOSURES: No relevant relationships by Hamza Alsaid No relevant relationships by Mark Cowan No relevant relationships by Kamel Gharaibeh no disclosure on file for Kathryn Robinett;Consultant relationship with Medtronic Please note: 1 year Added 04/04/2022 by Ashutosh Sachdeva, value=Consulting fee Consultant relationship with Intuitive Inc Please note: Intermittent Added 04/04/2022 by Ashutosh Sachdeva, value=Consulting fee Consultant relationship with MErit Please note: 2 years Added 04/04/2022 by Ashutosh Sa hdeva, value=Consulting fee Scientific Medical Advisor relationship with AMBU Please note: 6 months Added 04/04/2022 by Ashutosh Sachdeva, value=Consulting fee
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SESSION TITLE: Cases of Overdose, OTC, and Illegal Drug Critical Cases Posters SESSION TYPE: Case Report Posters PRESENTED ON: 10/17/2022 12:15 pm - 01:15 pm INTRODUCTION: Anchoring bias is a cognitive bias where one relies too heavily on initial information early on in the decision making process, affecting subsequent decisions due to future arguments being discussed in relation to the "anchor. Overemphasis on COVID-19 due to the pandemic has impacted the timely diagnosis and treatment of other diseases. CASE PRESENTATION: A 39-year-old man with a past medical history of COVID 19 in 12/2020 presents to the ED with increasing weakness, chest pain, recurrent fevers, diarrhea, and cough. CXR revealed bilateral infiltrates suggestive of pneumonia/pulmonary edema. Patient was empirically started on ceftriaxone. CT chest was suspicious of COVID-19;however repeat testing was negative. Diarrhea did not improve. Patient later admitted to recent travel to Jamaica. Ova and parasite, C-difficile, and stool culture were negative. On hospital day 8, the patient was intubated and placed on mechanical ventilation for worsening hypoxic respiratory failure Infectious disease was consulted for recurrent fevers of unknown origin and diarrhea with recent travel. Testing for typhoid fever, hantavirus, malaria, HIV, zika virus, chikungunya, dengue, and yellow fever were performed. Consent was obtained for HIV testing. HIV antibody tests were positive, CD4 count of 7, and viral load greater than 900k. Since a new diagnosis of AIDS with a CD4 count of 7 was obtained, the patient was subsequently tested for opportunistic infections such as TB. TB sputum PCR testing was positive but AFB smear was negative for TB. Antiretroviral and tuberculosis treatments were initiated. DISCUSSION: Anchoring bias can delay critical diagnoses and impede patient care if it is not recognized. According to Watson et. al, one way physicians circumvent the thought of pretest probability when ordering tests based on patient history and the subsequent list of differential diagnoses is anchoring bias. Bypassing the pretest probability also alters the sensitivity and specificity of testing because results that do not confirm or rule out a top differential diagnosis are thought to be inaccurate and are then repeated attributing the initial result to a bad specimen or an improper collection of the specimen. CONCLUSIONS: The case presented exemplifies clearly the concept of anchoring bias. Upon initial presentation, the patient had nonspecific symptoms such as weakness, chest pain, recurrent fevers, diarrhea, and cough, all of which can be symptoms of COVID 19 in the setting of a global pandemic. It is clear that the initial diagnosis based on these symptoms was COVID 19. When initial testing was negative, anchoring bias still played a role in the decision to test the patient once again, despite the first negative test. Repeat testing still did not support the diagnosis of COVID 19, which expanded the differential diagnosis and ultimately led to the correct diagnosis of AIDS with concomitant TB infection. Reference #1: Saposnik, et. Al. Cognitive Biases Associated with Medical Decisions: A Systematic Review. BMC Med Inform Decis Mak. 2016 Nov. 3. PMID: 27809908 Reference #2: Harada, et. al. COVID Blindness: Delayed Diagnosis of Aseptic Meningitis in the COVID-19 Era. Eur J Case Rep Intern Med. 2020 Oct 23. PMID: 33194872. Reference #3: Singh, et. al. The Global Burden of Diagnostic Errors in Primary Care. BMJ Qual Saf. 2016 Aug 16. PMID: 27530239. DISCLOSURES: No relevant relationships by Sagar Bhula
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SESSION TITLE: COVID-19 Case Report Posters 1 SESSION TYPE: Case Report Posters PRESENTED ON: 10/17/2022 12:15 pm - 01:15 pm INTRODUCTION: Persistent acute symptoms of coronavirus disease 2019 (Covid-19) have been previously described in patients receiving immunosuppression, and have additionally been associated with the development of new variants of the SARS-CoV-2 virus. Here follows a report of a similar case which eventually responded to treatment with antiviral and monoclonal antibody therapies. CASE PRESENTATION: The patient is a 51 year old male with a past medical history of bilateral optic neuritis (treated with rituximab), polysubstance use disorder, bipolar disorder, and hypertension. He initially presented to the emergency department in January 2022 with symptoms of shortness of breath, cough, and worsening fatigue over the preceding 3-4 weeks. On presentation he required intubation for hypoxia. A PCR test for SARS-CoV-2 returned positive and he was initiated on treatment with intravenous dexamethasone and antibiotics for presumed community acquired pneumonia. He was extubated 4 days later, but remained hospitalized for a further 6 weeks due to recurrent fevers and a persistent supplemental oxygen requirement. Due to concern for viral-induced cryptogenic organizing pneumonia he was started on high-dose intravenous steroids. However, he developed escalating oxygen requirements resulting in a second intubation to facilitate bronchoscopy, results of which were non-diagnostic. Serum testing for SARS COV2 IgG antibody, 10 weeks after the initial onset of his symptoms, returned negative, therefore he was then treated with a 5 day course of remdesivir, as well as monoclonal antibody therapy with casirivimab-imdevimab. He additionally underwent a VATS lung biopsy for definitive tissue diagnosis, which revealed interstitial inflammation with patchy fibroblastic linear nodules, consistent with diffuse alveolar damage. He was extubated and had improvement in his oxygen requirements and respiratory function, and was planned for discharge to pulmonary rehabilitation almost 3 months after his initial presentation. DISCUSSION: Patients receiving immunosuppression remain at risk for persistent symptoms, prolonged hospitalization, and increased morbidity and mortality, when infected with SARS-CoV-2. Notably, the patient described here had received only 2 doses of an FDA-approved COVID-19 vaccine at the time of his infection, and was being treated with rituximab for optic neuritis, with his last infusion being approximately one month before the onset of his symptoms. Such prolonged, symptomatic infection from SARS-CoV-2 remains a clinical concern, especially due to its association with the development of new viral variants, and further research into appropriate treatment for these patients continues to be investigated. CONCLUSIONS: This case demonstrates an immunocompromised patient with persistent symptoms of Covid-19 who eventually responded to treatment with the antiviral remdesivir, as well as monoclonal antibodies. Reference #1: Choi B, Choudhary MC, Regan J, et al. Persistence and evolution of SARS-CoV-2 in an immunocompromised host. N Engl J Med 2020;383:2291-2293. DISCLOSURES: No relevant relationships by Vivek Sinanan
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Background: The spread of COVID-19 had a strong impact in north-east Italy especially during 2020 and in the frst months of 2021. Patients affected by rheumatological disorders are at high risk of infections due to immunosuppressant therapies and a clear immunological imbalance. However, some anti-cytokines such as IL-1 inhibitors proved to be effective in curbing the cytokine storm, frequent feature of severe COVID-19. Objectives: We assessed the SARS-CoV-2 clinical course in 28 patients affected by autoinfammatory diseases, referring to the Autoinfammatory Outpatient Clinic of Padova University;in particular we observed if patients undertaking IL-1 inhibitors (group-1) had a diverse outcome compared to those not on anti-IL-1 drugs (group-2). Methods: Through telephone or e-mail consultancy, 28 patients (18 females, mean age 39.5±15), confrmed to have contracted COVID-19 between March 2020 and January 2022. Twelve patients (42.8%) were affected by periodic fevers (FMF/TRAPS), 10/28 (35.7%) had Adult-Onset Still's Disease, 3/28 (10.7%) had Undiffer-entiated Autoinfammatory Diseases, while 2/28 (7.1%) were affected by BehÇet Disease and one patient had Schnitzler Syndrome. 12 out of 28 patients (42.8%) were undertaking IL-1 inhibitors;8/28 (28.5%) were in therapy with colchicine;2 patients were in therapy with methotrexate and abatacept respectively, and 6/28 (21.4%) received no therapy. All were diagnosed with COVID-19 after molecular nasopharyn-geal swab performed either for the presence of symptoms or close contact with a positive subject. 5/28 patients had the infection after receiving the second vaccine shot, two after the booster dose. All the others had COVID-19 before the vaccine injection. GraphPad5 was used for statistical analysis and Fisher's test was applied. Results: COVID-19 clinical course was benign in 27 out of 28 patients (96.4%);a total of 29 infections were counted due to a case of re-infection;2 patients discontinued the therapy;all the others continued their medications (92.8%). Two patients (7.1%) of the entire cohort were hospitalized, one died. Regarding the major symptoms (fever ≥ 38 C°, cough/respiratory or gastro-intestinal symptoms) no difference was noticed between group-1 and group-2 (p=0.449);despite group-1 required less symptomatic therapy than group-2, the difference was not signifcant (p=0.471). Table 1 summarizes the clinical features exhibited by the patients and the therapies undertaken during the infection. Conclusion: Despite the low sample size, our study is of interest since it proves that the inhibition of IL-1 with both anakinra or canakinumab and the employment of colchicine, an important infammasome regulator, may curb the hyperinfammation typical of COVID-19. Given the promising results obtained with anti-IL-1 and colchi-cine in treating severe COVID-19, it is conceivable a 'protective' role of these drugs in preventing a massive cytokine release. Unsurprisingly, none of our patients but one, had a severe course or fatal outcome after SARS-CoV-2 infection.
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INTRODUCTION: E-cigarette or vaping product use associated lung injury (EVALI) is a recently described acute or subacute respiratory illness due to inhalation of toxic e-cigarette ingredients. Symptoms can include shortness of breath, cough, fever, chills, and gastrointestinal symptoms. It is a diagnosis of exclusion made in patients with history of vaping. DESCRIPTION: A 25-year-old male with history of untreated hypertension, childhood asthma, and regular vaping presented to the emergency department with 5 days of dyspnea, fever, nausea, vomiting, and diarrhea. He had a fever to 101.2 F and hypoxia requiring 2 L/min supplemental oxygen by nasal cannula. He had leukocytosis to 21/mm3. Chest CT revealed multifocal ground glass consolidations. His presentation was highly concerning for COVID-19, and he was designated a person under investigation (PUI) with agreement by the infectious disease consultation. PCR test for COVID-19 was negative. He was started on ceftriaxone and azithromycin for empiric treatment of community acquired pneumonia. However, three days later his oxygen requirement increased to high flow nasal cannula. HIV, urine legionella and streptococcal antigens, respiratory viral panel, and blood cultures were negative. COVID-19 testing was repeated twice due to suspicion of false negative and was negative, but he was started on dexamethasone per COVID-19 protocols as he continued to be a PUI. Additionally, he was encouraged to self-prone and use incentive spirometry. Hypoxia initially started to improve, but worsened again along with a recurrent fever, prompting initiation of a second course of antibiotics. Ultimately, it was concluded that there was no active infectious etiology for his hypoxic respiratory failure and he likely has EVALI. He was weaned off of oxygen after 2 weeks of hospitalization and was discharged with follow-up. DISCUSSION: This case demonstrates the susceptibility of physicians to the availability heuristic when developing a differential diagnosis during the COVID-19 pandemic. Particularly, the presentation of EVALI is remarkably similar to that of COVID-19. One of the few distinguishing features is leukocytosis in EVALI, whereas COVID-19 typically presents with leukopenia. It is important to maintain a broad differential including EVALI and assess patients for history of vaping.
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Introduction: Interleukin 1 (IL-1) induced proinflammatory signals were discovered as a causative aetiology in a spectrum of diseases. Efficacy and safety of the recombinant IL-1 receptor antagonist anakinra across autoinflammatory and autoimmune diseases has been demonstrated in many studies. Despite the recommended dosage in patients above 8 months and weighing more than 10 kg, use of higher doses or earlier onset of therapy have been occasionally reported. Objectives: To an institutional review of data on efficacy, safety and tolerance of anakinra in patients with autoinflammatory diseases (AID). Methods: A single-centre retrospective review of electronic records of patients treated with anakinra between August 2007 and May 2021. Results: A total of 47 patients (30 children, 17 adults) were identified. The median follow-up was 35 months (range 1-165 months). Patients have been treated for diagnosis of systemic juvenile idiopathic arthritis (sJIA) (n = 18;38%), cryopyrinopathy (CAPS) (n = 10;21%), mevalonate-kinase deficiency (MKD) (n = 7;15%), undifferentiated AID (uAID) (n = 6;13%), PIMS-TS (n = 3;6%), NLRC4-GOF (n = 1, 2%), PAPA syndrome (n = 1;2%) and polyarticular JIA (n = 1, 2%). The most frequent indication for starting anakinra was macrophage activation syndrome (MAS) (n = 20;42,5%) which occurred in patients with sJIA (n=14, 70%), uAID (n=3, 15%), PIMS (n=1, 5%), NLRC4-GOF (n=1, 5%) or polyarticular JIA (n=1, 5%). Fourteen patients with sJIA (78%) received anakinra due to macrophage activation syndrome. MAS was the first manifestation of sJIA in 6 patients (33%). Recommended dosing of anakinra (1-4 mg/kg/day) was exceeded in 44,6% of patients (n=21) with the following dose range: 4-6 mg/kg (n = 8;38%), 6-9,9mg/kg (n = 4;19%), ≥10 mg/kg (n = 9;43%). Paediatric cohort received anakinra in very wide dosing range of 1,4 -26,1 mg/kg (average 5,59 mg/kg, median 4,15 mg/kg). The highest dose (10-26mg/kg) was required by patients with uAID (n=1, 8 days of age), sJIA/MAS (n=2, 3 and 5 years of age), CINCA (n=1, 4 years of age) and NLRC4-GOF (n=1, 4 weeks of age). The median dose of anakinra in adult patients was 1,6 mg/kg (range 0,9-7,7mg/kg). In severely sick patients the daily dose was divided into 2-4 intravenous applications, one patient received continuous anakinra i.v. infusion. Rapid therapeutic effect (within 24-48 hours from starting anakinra) was observed in all patients. The most frequent recorded adverse effects were already well-known injection-site reaction in 25,5% (n = 12) of patients which disappeared within one month in all of them. Persistent eosinophilia (highest values 3,6 and 2,3x10 ∗9 cells) was documented in 2 sJIA patients. Mild asymptomatic neutropenia (ANC min 0,8 x10 ∗9/L) and transient liver transaminase elevation (up to 3-times ULN) both occurred in 4,2% (n = 2) of patients each. Conclusion: Use of anakinra in a wide dosing range was reported. Our observation illustrates the need as well as safety of higher anakinra dosing in younger age groups including 2 newborns. No serious adverse effects that would require discontinuation or termination of anakinra were observed at all dosing regimens.
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The proceedings contain 431 papers. The topics discussed include: long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomized phase 3 cluster trial;long-term safety of canakinumab in patients with autoinflammatory periodic fever syndromes - interim analysis of the reliance registry;NLRP3 splice variants inactivate caps phenotype in vitro;OAS1 GOF causes a novel autoinflammatory disease characterized by persistently elevated ifn signature, hypogammaglobulinemia, and alveolar proteinosis;while looking for one, you may find another: tin soldiers and the search for undiagnosed individuals with fibrodysplasia ossificans progressiva (FOP);nailfold capillaroscopy: a sensitive method for evaluating microvascular involvement in children with SARS-COV-2 infection;and outcomes of COVID-19 infection among children and young people with pre-existing rheumatic and musculoskeletal diseases.
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Introduction : The skin may be involved in inborn errors of immunity (IEI) and serve as important clues for diagnosis. We report a boy presented with subcutaneous abscesses caused by Pseudomonas aeruginosa and diagnosed as X-linked agammaglobulinemia (XLA). Case Report : A 13-months-old boy patient was referred to our immunology clinic with a history of recurrent fever and skin lesions resistant to conventional therapies on his limbs and cyclic neutropenia. He was the first child of consanguineous parents. His past medical history revealed that he had been suffering from recurrent otitis media, sinopulmonary infections, and conjunctivitis since the age of four months. He was hospitalized with a diagnosis of otitis media, and his fever persisted despite the given antibiotic treatment. Skin abscesses on his extremities occurred and were drained. On physical examination, there were a total of 16 erythematous, hemorrhagic subcutaneous nodules with central black eschar. His tonsils were rudimentary. Peripheral blood sampling showed a white blood cell count 41.3 × 109 /L with 52.3 × 109 /L neutrophils, 33.1 × 109 /L lymphocytes, %2.6 × 109 /L eosinophils, hemoglobin 9.9 g/L, and a platelet count of 397 × 109 /L. Sedimentation 18 mm/h. COVID-19 real-time PCR was negative. His immunological screening revealed that agammaglobulinemia and absence of B cells, consistent with X-linked agammaglobulinemia (Table 1). BTK gene sequence analysis showed the presence of a BTK:c.404-406delACA and BTK:c.407-408insCTTTA hemizygous mutations. To our knowledge, it has never been described before that the compound heterozygosity of these mutations causes X-linked agammaglobulinemia. These variants were classified as likely pathogenic according to the ACMG guidelines and confirmed as XLA. His mother is the carrier. Pseudomonas aeruginosa was isolated in his abscess cultures. Abscess lesions on the right and left leg were drained again, but they repeated. Hereby, the abscess lesions and subcutaneous nodules were evacuated by plastic surgery, and the daily dressing was done with silver material. In the follow-up, the skin lesions improved gradually. The patient was discharged with immunoglobulin replacement therapy and prophylactic antibiotic. Conclusion : Pseudomonas skin infection is common among IEIs, especially patients with neutropenia. XLA should be kept in mind in the evaluation of unexplained cyclic neutropenia and skin abscess resistance to therapy. (Table Presented).