IntroductionMarfan syndrome, G6PD deficiency, systemic lupus erythematosus (SLE), and Castleman disease are four distinctive, thoroughly investigated entities whose coincidence was never reported. However, occurrence in pairs was sporadically mentioned in literature.Case presentationWe report a 15-year-old Caucasian G6PD deficient Marfan male patient, who presented with tonic–clonic seizures, fever, a hemolytic episode, and general symptoms. After the discovery of hepatosplenomegaly, malar rash, and painless lymphadenopathy, further testing diagnosed a multifocal Castleman disease of the hyaline vascular subtype and systemic lupus erythematosus with lupus nephritis that got 35 points on the 2019 EULAR/ACR criteria. G6PD deficiency, SLE & Castleman disease, and seizures were handled medically with eventual improvement in the patient’s condition.Discussion and conclusionIt is extremely rare to discover the gathering of these four diseases in the same patient. Marfan syndrome and G6PD deficiency were proven by respective clinical and laboratory examinations. Castleman disease that tends to occur in older age groups was confirmed via pathological study of a lymph node biopsy, which was compatible with the HHV-8 negative type reported in Asian countries. SLE is part of the differential diagnosis for Castleman disease, yet the newest evidence strongly supports its presence as a distinct entity. However, no concrete proof is available to suggest a causative relationship between the four of them, rather than a coincidental occurrence.

BackgroundChronic fatigue syndrome/myalgic encephalomyelitis (CFS/MS) is an incapacitating chronic disease that dramatically compromise the life quality. The CFS/ME pathogenesis is multifactorial, and it is believed that immunological, metabolic and environmental factors play a role. It is well documented an increased activity of Human endogenous retroviruses (HERVs) from different families in autoimmune and neurological diseases, making these elements good candidates for biomarkers or even triggers for such diseases.MethodsHere the expression of Endogenous retroviruses K and W (HERV-K and HERV-W) was determined in blood from moderately and severely affected ME/CFS patients through real time PCR.ResultsHERV-K was overexpressed only in moderately affected individuals but HERV-W showed no difference.ConclusionsThis is the first report about HERV-K differential expression in moderate ME/CFS. Although the relationship between HERVs and ME/CFS has yet to be proven, the observation of this phenomenon deserves further attention.

BackgroundAntiphospholipid syndrome (APS) is an autoimmune disease characterized by the occurrence of venous and/or arterial thrombosis, and the detection of circulating antiphospholipid antibodies. The classification criteria for definite APS are actually met when at least one clinical criterion (thrombosis or pregnancy morbidity) is present in association of one laboratory criterion (LAC, aCL antibody or aβ2GPI antibody present on two or more occasions, at least 12 weeks a part), and thrombosis should be confirmed by objective validated criteria. The average age of primary APS patients has been reported to be about 35–40 years and the disease is more common in women than in men.Case presentationIn this report, we described a rare case of an adult male who presented over a period of 9 years with a wide spectrum of clinical manifestations involving different organs that were not initially diagnosed as APS. Dizziness and syncope were his first clinical symptoms, and a non-bacterial thrombotic endocarditis (NBTE) involving the mitral valve was at first diagnosed. Subsequently, the patient also presented with generalized seizures and subsequent head injury. When the patient was admitted to our clinic with bilateral epistaxis and fever, thrombocytopenia was revealed. Moreover, laboratory examinations showed acute pancreatitis with an increase of levels of inflammation markers.ConclusionBased on the patient’s medical history and all the examination results, it was possible to make a diagnosis of primary APS and, starting from diagnosis of thrombocytopenia, we were allowed to conclude that all of manifestation were epi-phenomena of a unique clinical entity, rather than unrelated diseases. Though APS is one of the most common thrombocytophilias, unfortunately, it is not recognized often enough. The lack of prevention in undiagnosed patients may cause severe complications which can in turn result in the death of those patients.

PurposeScreening for paraneoplastic antibodies is often performed by means of indirect immunofluorescence on primate cerebellar slices. However, atypical immunofluorescence patterns, i.e. patterns that are not specifically related to paraneoplastic antibodies, are often reported. The clinical significance of these patterns is not clear. Therefore, the purpose of this study was to determine the significance and diagnostic value—in terms of a paraneoplastic neurological syndrome or other neurological disease being diagnosed in the patient—of such atypical immunofluorescence screening patterns on primate cerebellum.MethodsThis study is a retrospective single center study including atypical indirect immunofluorescence screening patterns of patients with a negative or absent typing assay for intraneuronal and anti-amphiphysin paraneoplastic antibodies. Patients with a positive typing assay or without final diagnosis were excluded. Included patients were grouped according to (i) reported immunofluorescence pattern and (ii) established diagnosis, after which contingency table analyses were performed to investigate an interrelation between reported pattern and diagnostic group.ResultsIn 3.7% of cases, patients with an atypical pattern obtained a final diagnosis of a paraneoplastic neurological syndrome. The presence of atypical patterns was more prominent in patients with epilepsy or peripheral neuropathies (pMonte Carlo simulation= 0.026), without, however, adding any diagnostic information.ConclusionsAn atypical indirect immunofluorescence pattern on primate cerebellum in the screening for paraneoplastic antibodies has only very minor relevance with respect to paraneoplastic neurological syndromes or any other neurological disease, recommending clinicians to interpret the results of positive screening assays for such antibodies with care.

BackgroundTo calculate the genetic impact of the “HLA-B27” allele on the risk of Behcet’s disease (BD) progression using a systematic review and meta-analysis on case control papers.MethodsA systematic review search was conducted on the MeSH keywords of Behcet’s disease, HLAB27 and B27 in PubMed, Scopus, ProQuest, EMBASE, SID, Magiran, IranDoc and IranMedex databases from 1975 to Aug 2017. Data underwent meta-analysis (random effect model) in CMA2 software. Pooled odds ratios with 95% confidence intervals were calculated for each study. The heterogeneity of the articles was measured using the I2 index.ResultsTwenty two articles met the inclusion criteria for 3939 cases and 6077 controls. The pooled OR of “HLA-B27” in BD patients compared with controls was [1.55 (CI 95% 1.01–2.38), P = 0.04]. The OR differ among different countries or geographical areas, focus on domination the European countries. Quality of studies was moderate and heterogeneity was relatively high (I2 = 66.9%).ConclusionsThere is a significant correlation between HLA-B27 and Behcet’s Disease, but it was weak. Environmental and genetic factors might determine which the “HLA-B27” alleles manifest Behcet’s disease progression. Future researches is required to perform about what factors can do to positively and separately influence Behcet’s disease.

Adult onset Still’s disease (AOSD) is a systemic auto-inflammatory condition of unknown etiology, characterized by high fever, an evanescent, salmon-pink maculopapular skin rash, arthralgia or arthritis and leukocytosis. AOSD can also present with atypical cutaneous manifestations, such as persistent pruritic coalescent papules or plaques and linear lesions that have highly distinctive pathological features and are usually associated with severe disease. Herein, we present a 31-year-old Brazilian man with both typical Still’s rash and atypical persistent polymorphic cutaneous manifestations associated with severe systemic inflammatory response syndrome. Eosinophils that are consistently lacking in the AOSD-associated skin lesions were evident in the skin biopsy of the persistent atypical cutaneous manifestations and were either drug-related or AOSD-associated.

Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) has been recently proposed by Shoenfeld and Agmon-Levin as a new entity that comprises several conditions: the macrophagic-myofasciitis syndrome, the Gulf War syndrome, silicosis and post-vaccination phenomena, autoimmunity related to infectious fragments, hormones, aluminum, silicone, squalene oil, and pristane. We report the case of a 23-year-old woman who developed serial episodes of high fever, extreme fatigue, transient thrombocytopenia, multiple cervical adenopathies, hepatosplenomegaly, anemia, neutropenia, severe proteinuria and urine sediment abnormalities, elevated serum ferritin levels, and transient low positive antinuclear antibodies 1 year after she had a nickel–titanium chin implant for cosmetic reasons. The clinical picture simulated a variety of probable diseases: systemic lupus erythematosus, Kikuchi–Fujimoto syndrome, adult onset Still’s disease, antiphospholipid syndrome, and hemophagocytic syndrome, among others, so she underwent an extensive medical investigation including two lymph node biopsies. She received treatment accordingly with steroids, methotrexate, and mofetil mycophenolate, with initial improvement of her symptoms, which recurred every time the dose was reduced. Two and a half years later the patient decided to retire the chin implant and afterwards all her systemic symptoms have disappeared. She remains in good health, without recurrence of any symptom and off medications until today. Albeit this patient fulfills proposed major ASIA criteria, to our knowledge it would be the first description of systemic features of autoinflammation in connection with a metal implant.

Hepatitis C virus infection is associated with several extrahepatic manifestations. About 60% of patients infected with HCV develop at least one extrahepatic manifestation. The majority of these diseases seem to be triggered through autoimmune mechanisms, such as autoantibody production, autoreactive T cells and complex autoimmune mechanisms leading to systemic autoimmune disorders. In this review we categorize these diseases into three groups according to the main pathogenetic process involved, in particular B-cell-mediated, T-cell-mediated and complex autoimmune systemic diseases.