Case Reports in Immunology最新文献

{"title":"Limbic Encephalitis following Allogeneic Hematopoietic Stem Cell Transplantation.","authors":"Silje Johansen,&nbsp;Jostein Kråkenes,&nbsp;C A Vedeler,&nbsp;Anette Margrethe Storstein,&nbsp;Håkon Reikvam","doi":"10.1155/2022/4174755","DOIUrl":"https://doi.org/10.1155/2022/4174755","url":null,"abstract":"<p><p>A woman with myelodysplastic syndrome (MDS) was treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT). 65 days after the transplantation, she developed fatigue and central neurological symptoms. Clinical workup including magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) examination revealed findings suspicious for limbic encephalitis (LE), successfully treated with intravenous immunoglobulins and intravenous corticosteroids. Although a rare complication after allo-HSCT, physicians should be aware of neurological symptoms that develop throughout the transplantation course.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"4174755"},"PeriodicalIF":1.0,"publicationDate":"2022-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40370594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systemic Sclerosis, Reversible Cerebral Vasoconstriction Syndrome, and NeuroMyelitis Optica in a Patient.","authors":"Masoud Etemadifar,&nbsp;Mehdi Shafiei,&nbsp;Mehri Salari,&nbsp;Ali Modares Sadeghi,&nbsp;Mohammad Fakhrolmobasheri","doi":"10.1155/2022/8541329","DOIUrl":"https://doi.org/10.1155/2022/8541329","url":null,"abstract":"<p><p>Systemic sclerosis (SSC) is an autoimmune disease of connective tissue and microvasculature mostly caused by autoantibodies. Likewise, neuromyelitis optica (NMO) is a demyelinating disease of the central nervous system correlating with autoantibodies against aquapourin-4. Reversible cerebral vasoconstriction syndrome (RCVS) is a disorder of brain vasculature resembling Raynaud phenomena in SSC. Despite co-occurrence is not rare in autoimmune disorders, the co-occurrence of NMO and SSC is extremely rare. In this case, we report a 35-year-old female presenting with paraplegia one day after discharge from hospital following surgical carnioplasty. She had a history of scleroderma and optic neuritis for which she was treated with high dose glucocorticoids causing renal crisis and RCVS causing intracranial and intracerebral hemorrhage which required a craniotomy to be performed in February 2020. In her recent admission, magnetic resonance imaging of the spinal cord indicated longitudinally extensive transverse myelitis (LETM) and blood tests revealed a highly positive titer of NMO-IgG. Daily plasmapheresis resulted in satisfactory improvement in her condition. This case highlights the importance of evaluating neurologic manifestations in systemic sclerosis patients considering the NMO and RCVS occurrence. Additionally, in concomitant cases, the treatment strategy should be modified regarding the risk of scleroderma renal crisis.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"8541329"},"PeriodicalIF":1.0,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40527432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features.","authors":"Ugur Musabak,&nbsp;Serdar Ceylaner,&nbsp;Tuba Erdogan,&nbsp;Ebru Sebnem Ayva","doi":"10.1155/2022/4970973","DOIUrl":"https://doi.org/10.1155/2022/4970973","url":null,"abstract":"Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to antibody deficiency. In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein–Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"4970973"},"PeriodicalIF":1.0,"publicationDate":"2022-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9273453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40592242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Passenger Lymphocyte Syndrome and Autoimmune Hypothyroidism Following Hematopoietic Stem Cell Transplantation.","authors":"Denis F Noubouossie,&nbsp;Mohammed I A Zaanona,&nbsp;Luciano J Costa,&nbsp;Huy P Pham,&nbsp;Marisa B Marques,&nbsp;Antonio Di Stasi","doi":"10.1155/2022/1690489","DOIUrl":"https://doi.org/10.1155/2022/1690489","url":null,"abstract":"<p><p>We present the case of a 24-year-old male, who received a minor ABO-incompatible allogeneic hematopoietic stem cell transplant (HSCT, blood group O⁺ ⟶ A⁺) from an HLA-matched unrelated female donor, as consolidation therapy for relapsed precursor-B-cell acute lymphoblastic leukemia. The donor had a known history of Hashimoto's thyroiditis before HSCT. At day +10 posttransplant, the patient developed severe hemolysis, which required emergent red blood cell exchange. Additionally, about a year posttransplant, he had circulating antithyroglobulin antibodies, decreased free-T4 (fT4) and increased serum thyroid-stimulating hormone (TSH). The potential causes of the posttransplant hemolytic episode and hypothyroidism are discussed. While the hemolysis was worsened by the transfusion of A red blood cells (RBCs) in the context of passenger lymphocyte syndrome, the thyroid dysfunction might be explained by an autoimmune disease transferred from the donor. The case highlights the possibility of several non-relapse-related complications of HSCT occurring in the same patient. It is critical that such adverse outcomes are distinguished from classical graft-versus-host disease (GVHD) for adequate recipient counseling, posttransplant screening, and prompt treatment.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"1690489"},"PeriodicalIF":1.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9246625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40469282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.","authors":"Ezgi Topyildiz,&nbsp;Neslihan Edeer Karaca,&nbsp;Ayse Aygun,&nbsp;Ayca Aykut,&nbsp;Asude Durmaz,&nbsp;Guzide Aksu,&nbsp;Necil Kutukculer","doi":"10.1155/2022/7313009","DOIUrl":"https://doi.org/10.1155/2022/7313009","url":null,"abstract":"<p><p>Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections. We present a four-year-old Turkish boy who had recurrent respiratory tract infections in the last six months. He had very low IgG (81 mg/dl) and IgA levels (<5 mg/dl) with high IgM (258 mg/dl). Flow cytometric analysis of lymphocyte subsets showed low CD19+ B cells (0.05%). Homozygous c.790C > T (p.Gln264Ter) mutation was detected in the BLNK gene with Targeted Next Generation Sequencing (TNGS) gene analysis. Agammaglobulinemia may be due to different genetic etiologies together with complex genetic events. Although the first diagnosis to be considered in male patients is Bruton's agammaglobulinemia, patients with normal BTK sequence and/or expression should be investigated with a large genetic study such as TNGS in the early period to reach a definitive diagnosis. This male case of agammaglobulinemia highlights the necessity of considering BLNK mutations in children with B cell deficiency, even though they are known to be rare causes of agammaglobulinemia. Our case is also remarkable with high IgM levels before intravenous immunoglobulin replacement therapy and with late-onset severe infections.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"7313009"},"PeriodicalIF":1.0,"publicationDate":"2022-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40012687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adult-Onset Still's Disease with Dermatopathic Lymphadenitis Clinicopathologic Features: A Rare Case Report and Review of the Literature","authors":"Reda Elhawary, M. Nadeem, M. Abdelwahed, Mansour Somaily, Shahenda Y. Alemam","doi":"10.1155/2022/1653683","DOIUrl":"https://doi.org/10.1155/2022/1653683","url":null,"abstract":"Adult-onset Still's disease (AOSD) is an inflammatory disorder characterized by fever, arthritis, and a transient skin rash. It is a rare condition characterized by inflammatory multisystem changes of unknown cause. A 35-year-old woman was admitted to rheumatology department of tertiary care hospital complaining of painful wrist and skin rash as well as fever, generalized lymphadenopathy, weight loss, and fatigue. The early diagnosis of AOSD was confirmed by clinical history, examination, and laboratory tests, as well as a confirmatory skin biopsy with typical histopathological features, namely, upper epidermal dyskeratosis and dermal inflammatory neutrophilic infiltration. The patient's condition was treated with steroids and NSAIDs, to which she responded well, and on follow-up, her symptoms regressed along with improvement in biochemical parameters. The authors suggest that skin biopsy and confirmation of histopathological diagnosis of AOSD are useful in the diagnosis and proper management of AOSD patients in cases with clinical suspicion of AOSD.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"40 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76666801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis","authors":"F. Staels, W. Meersseman, P. Stordeur, K. Willekens, S. Van Loo, A. Corveleyn, I. Meyts, G. Meyfroidt, R. Schrijvers","doi":"10.1155/2022/9057000","DOIUrl":"https://doi.org/10.1155/2022/9057000","url":null,"abstract":"The complement system is an essential part of our innate immune system. Three enzymatic activation pathways are described, all converging into a common terminal pathway which causes lysis of the target cell. Late complement deficiencies (LCDs) are typically diagnosed in children or adolescents with invasive meningococcal disease (IMD). However, IMD can also be a first manifestation in adulthood and should prompt for the evaluation of the LCD. We report the case of a young adult with IMD who was found to have a LCD, caused by a compound heterozygous mutation in C6. His vaccination status was optimized and prophylactic antibiotic treatment was initiated. By means of this case, we would like to raise awareness of underlying LCD in (young) adults presenting with IMD by N. meningitidis. Screening for complement deficiencies after IMD, followed by genetic testing, can be lifesaving and allows for genetic counselling. In addition, we discuss the diagnosis and treatment of LCD.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"40 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85003434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Anti-SAE1 Dermatomyositis","authors":"Max de Vries, M. Schreurs, Els J. M. Ahsmann, Marcela Spee-Dropková, Faiz Karim","doi":"10.1155/2022/9000608","DOIUrl":"https://doi.org/10.1155/2022/9000608","url":null,"abstract":"Introduction Anti-SAE1 antibodies have a low prevalence in dermatomyositis patients. Case Description. A 61-year-old woman presented with progressive shortness of breath, arthralgia, heliotrope rash, Gottron's papules, and erythematous rash. She had an interstitial lung disease (ILD) with a significant decrease in lung function. There was no muscle involvement. Immunological laboratory test results showed strongly positive anti-SAE1 antibodies. Glucocorticoid treatment resulted in remission of dermatomyositis. Conclusion Anti-SAE antibodies in dermatomyositis patients are closely linked to unique clinical features.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"175 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72636527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel <i>MAGT1</i> Mutation Found in the First Chinese XMEN in Hong Kong.","authors":"Elaine Yuen Ling Au,&nbsp;Edmund Kwok Kwan Tung,&nbsp;Ricky Wai Ki Ip,&nbsp;Philip Hei Li","doi":"10.1155/2022/2390167","DOIUrl":"https://doi.org/10.1155/2022/2390167","url":null,"abstract":"<p><p>The availability of next-generation sequencing (NGS) helps to resolve many of the diagnostic odysseys. Common variable immunodeficiency disease (CVID) is an entity encompassing a heterogenous group of conditions with hypogammaglobulinemia, and it is a diagnosis of exclusion. In recent years, with the advances of molecular diagnostics, more and more patients have been reclassified with more defined entities after their genetic causes were found. Here, we reported a young man, who was managed as CVID since childhood, presenting with recurrent infection, hypogammaglobulinemia, and immune thrombocytopenia (ITP). Finally, more than a decade after initial presentation, gene panel testing revealed a novel mutation in the MAGT1 gene. Collectively, the genetic findings and clinical presentations confirm the diagnosis of X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia (XMEN). MAGT1 is an evolutionarily conserved, magnesium-specific transporter expressed in all mammalian cells that plays an essential role in magnesium homeostasis. MAGT1 also acts as an accessory protein for STT3B, as catalytic subunits of the oligosaccharyltransferase protein complex, which carries out glycan chain transfer to proteins in the endoplasmic reticulum during N-glycosylation. Glycans play an essential role in the stability, maturation, and localization in glycoproteins that are important in our immune cells' function. Mutation of the gene resulted in a rare X-linked recessive condition XMEN. The disease has complete penetrance but variable expressivity. It is mainly associated with immunodeficiency, immunodysregulation, and predisposition to EBV-associated lymphoproliferation. Extraimmune manifestations have also been reported in some patient cohorts, including hepatic and neurological abnormalities. Overall, the presentation varies among patients and overlaps with other clinical entities, in which diagnosis is challenging. Before the era of NGS, traditional workup hinges heavily on phenotype studies, followed by single-gene sequencing. The diagnostic yield is low, and a significant delay in diagnosis is common. This case illustrated the importance of early consideration of molecular studies in complex immunological cases without obvious secondary causes as an integral part of patient management.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2022 ","pages":"2390167"},"PeriodicalIF":1.0,"publicationDate":"2022-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39659259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pulmonary Alveolar Proteinosis Refractory to Plasmapheresis and Rituximab despite GM-CSF Antibody Reduction.","authors":"Aysenur Keske,&nbsp;Eric M Destrampe,&nbsp;Byron Barksdale,&nbsp;William N Rose","doi":"10.1155/2022/2104270","DOIUrl":"https://doi.org/10.1155/2022/2104270","url":null,"abstract":"<p><p>We share our experience of a patient with pulmonary alveolar proteinosis who was refractory to plasmapheresis and rituximab despite a significant reduction in the offending antibody. He presented with shortness of breath, fevers, chills, and sweats for 4 months. He was diagnosed with autoimmune PAP based on typical radiology findings, bronchoalveolar fluid analysis, and elevated anti-GM-CSF levels. Given his limited improvement with whole lung lavage and inhaled GM-CSF therapy, he underwent two series of plasmapheresis. Series one was 5 procedures in 6 days, and series two was 5 procedures in 9 days followed by rituximab. These did not appear to provide any lasting clinical benefit in the year after plasmapheresis despite a marked decrease in serum anti-GM-CSF levels. However, about a year after plasmapheresis, he went into remission and has not required any treatment.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2022 ","pages":"2104270"},"PeriodicalIF":1.0,"publicationDate":"2022-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39609485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}