Objective To explore the clinical characteristics of autoimmune disease with dual seropositive antibodies of leucine-rich glioma inactivated 1(LGI1)and contactin-associated protein 2(Caspr2).Methods The clinical data of seven patients with dual seropositive LGI1 and Caspr2 antibodies who were admitted to the Neurology Department of Peking Union Medical College Hospital from July 2014 to December 2017 were retrospectively analyzed.Results Central,peripheral and autonomic nervous systems were all involved in the seven cases;100%(7/7)presented with insomnia,myokymia,neuropahic pain and hyperhydrosis;71%(5/7)showed memory decline or psychiatric and behavioral symptoms;57%(4/7)had urinary hesitation or constipation;and 43%(3/7)had seizure.Electromyography showed 100%(6/6) of the patients had prolonged afterdischarges following normal M waves and/or abnormal spontaneous firing.Electroencephalography revealed slow waves or basic rhythm slowing in 71%(5/7)of patients.Electrocardiography showed sinus tachycardia,axis deviation,and prolonged QT intervals in 71%(5/7)of patients.One patient died from arrhythmia before immunotherapy.One died from pulmonary infection after immunotherapy.Improvement with immunotherapy was documented in the other five cases.No relapse was noted during the 1-2-year follow-up.Conclusions Autoimmune disease with dual seropositive antibodies of LGI1 and Caspr2 can diffusely affect the central,peripheral,and autonomic nervous systems.The possibility of this disease should be considered in patients with acute and subacute onset of neuropsychiatric symptoms,especially in patients with accompanying insomnia,myokymia,and hyperhydrosis.
Autoantibodies ; blood ; Autoimmune Diseases ; immunology ; Humans ; Membrane Proteins ; immunology ; Nerve Tissue Proteins ; immunology ; Proteins ; immunology ; Retrospective Studies

BACKGROUND: The indirect basophil activation test using flow cytometry is a promising tool for autoimmune urticaria diagnosis. We aimed to identify better donor basophils (from atopic vs. non-atopic donors and interleukin-3 primed vs. unprimed basophils) and improve basophil identification and activation markers (eotaxin CC chemokine receptor-3 [CCR3] vs. CD123 and CD63 vs. CD203c). METHODS: Donor basophils were obtained from non-atopic and atopic group O donors. Positive control sera were artificially prepared to simulate autoimmune urticaria patients' sera. Patient sera were obtained from nine children with chronic urticaria. Assay sensitivity was compared among each variation by using positive control sera (n=21), applying cutoff values defined from negative control sera (n=20). RESULTS: For basophil identification, a combination of CCR3 and CD123 markers revealed a higher correlation with automated complete blood count (r=0.530) compared with that observed using CD123 (r=0.498) or CCR3 alone (r=0.195). Three activation markers on the atopic donor basophils attained 100% assay sensitivity: CD203c on unprimed basophils, CD63+CD203+ or CD63 alone on primed basophils; however, these markers on the non-atopic donor basophils attained lower assay sensitivity. CONCLUSIONS: For basophil identification markers, a combination of CD123 and CCR3 is recommended, while CD123 alone may be used as an alternative. Donor basophils should be obtained from an atopic donor. For basophil activation markers, either CD203c alone on unprimed basophils or CD203c and CD63 on primed basophils are recommended, while CD63 alone on primed basophils may be used as an alternative.
Autoimmune Diseases/blood/*diagnosis/immunology ; Basophils/*immunology/metabolism ; Biomarkers/blood ; Child ; Flow Cytometry ; Humans ; Interleukin-3 Receptor alpha Subunit/blood ; Male ; Receptors, CCR3/blood ; Urticaria/blood/*diagnosis/immunology

Autoimmune retinopathy (AIR) is an immune-mediated retinopathy, resulting from an immunologic process caused by the aberrant recognition of retinal antigens as autoantigens. The diagnosis of AIR involves the detection of antiretinal antibodies with concurrent clinical and electrophysiological evidence of retinopathy. A 40-year-old patient presented with progressive loss of bilateral vision over several months. A fundus examination was unremarkable. Spectral domain optical coherence tomography revealed a blurred photoreceptor ellipsoid zone at the subfoveal region in both eyes with more prominent disruption in the left eye. Full-field electroretinography (ERG) showed relatively normal rod and cone responses in the right eye, and decreased photopic bwaves with minimal attenuation of a-waves in the left eye. Multifocal ERG demonstrated slightly reduced amplitude of the inner segment ring in the right eye and decreased amplitudes and delayed latencies of all modalities in the left eye. The patient was suspected to have AIR and it was supported by positive Western blots for 23-kDa protein, enolase (46-kDa), aldolase (40-kDa), 62-kDa and 78-kDa proteins and by immunohistochemical staining of human retinal bipolar and ganglion cells. Despite the immunosuppressive treatment, the destruction of the retinal photoreceptors progressed, and immunosuppressive interventions produced very little visual improvement. We report on what is, to the best of our knowledge, the very first case of serologically confirmed nonparaneoplastic AIR in Korea.
Autoantibodies/*blood/immunology ; Autoantigens ; Autoimmune Diseases/*immunology ; Electroretinography ; Humans ; Immunologic Factors ; Paraneoplastic Syndromes/*immunology ; Paraneoplastic Syndromes, Ocular ; Phosphopyruvate Hydratase ; Recoverin ; Republic of Korea ; Retina/*immunology ; Retinal Diseases/*immunology ; Tomography, Optical Coherence

OBJECTIVETo investigate effect of CD4(+) CD25(+) Foxp3(+) Tregs in the treatment of autoimmune myositis (EAM) in mice and explore the possible mechanisms.

METHODSMouse models of EAM were divided randomly into model group and treatment group, and the latter received infusion of CD4(+) CD25(+) Foxp3(+) Tregs separated from normal mouse spleen by magnetic activated cell sorting. The changes of muscle pathology was observed, and the expression of PD-1 and CTLA-4 in spleen CD4(+) CD25(+) Foxp3(+) Tregs was analyzed using flow cytometry; peripheral blood IL-10 and TGF-β levels were tested using double antibody sandwich ELISA.

RESULTSCompare with the model group, the mice in the treatment group showed significantly reduced muscular inflammatory cell infiltration, increased blood levels of IL-10 and TGF-β (P<0.05), and increased expression of PD-1 and CTLA-4 in spleen CD4(+) CD25(+) Foxp3(+) Tregs (P<0.05).

CONCLUSIONCD4(+) CD25(+) Foxp3(+) Tregs reinfusion produces therapeutic effect in mice with EAM by increasing peripheral blood IL-10 and TGF-β levels and PD-1 and CTLA-4 expressions in spleen CD4(+) CD25(+) Foxp3(+) Tregs.

Animals ; Autoimmune Diseases ; immunology ; CTLA-4 Antigen ; metabolism ; Cell Separation ; Cell- and Tissue-Based Therapy ; Disease Models, Animal ; Flow Cytometry ; Interleukin-10 ; blood ; Mice ; Myositis ; immunology ; Programmed Cell Death 1 Receptor ; metabolism ; Spleen ; immunology ; T-Lymphocytes, Regulatory ; immunology ; Transforming Growth Factor beta1 ; blood

Immune thrombocytopenia (ITP) is an autoimmune hemorrhagic disease. It is considered that production of platelet auto-antibodies was one of the pathogenesis of ITP, first-line therapy including corticosteroid and immunoglobulin could reduce destruction of platelets by inhibiting production of auto-antibodies and blocking Fc-receptor of reticuloendothelial system, but some of the patients were refractory to first-line therapy and have persistent duration of the disease, having worse prognosis and developing into chronic/refractory ITP(C/RITP) . Platelet membrane glycoprotein like GPIIb/IIIa and GPIbα are the most common antigen targets, but first-line therapy was less effective to patients whose anti-GPIbα antibodies are positive. Further studies revealed that the way causing platelet destruction by anti-GPIIb/IIIa antibodies and anti-GPIbα antibodies are different: the former is mainly dependent to Fc-pathway, and the latter mainly cleared platelet by Fc-independent way. Results above indicated that detection of type of platelet auto-antibodies maybe potential to treatment and prognosis of ITP. This article summarizes relationship between platelet specific antibodies and the onset, clinical manifestation, treatment and prognosis of ITP.
Antibodies ; immunology ; Autoimmune Diseases ; Blood Platelets ; immunology ; Humans ; Platelet Membrane Glycoproteins ; Prognosis ; Thrombocytopenia ; immunology ; therapy

To determine the approximate incidence and clinical features of pernicious anemia in a Korean population, we retrospectively analyzed clinical data for patients with pernicious anemia who were diagnosed between 1995 and 2010 at five hospitals in Chungnam province. Ninety-seven patients were enrolled, who accounted for 24% of patients with vitamin B12 deficiency anemia. The approximate annual incidence of pernicious anemia was 0.3 per 100,000. The median age was 66 (range, 32-98) yr, and the male/female ratio was 1.25. Anemia-associated discomfort was the most common symptom (79.4%), followed by gastrointestinal and neurological symptoms (78.4% and 38.1%, respectively). Pancytopenia was found in 36 patients (37.1%), and autoimmune disorders were found in 15 patients (15.5%). Antibody to intrinsic factor was detected in 62 (77.5%) of 80 patients examined, and antibody to parietal cells was detected in 35 (43.2%) of 81 patients examined. Of the 34 patients who underwent tests for Helicobacter pylori, 7 (12.5%) were positive. The anemia-associated and gastrointestinal symptoms resolved completely in all patients after intramuscular injection of cobalamin, whereas neurological symptoms remained in some. In conclusion, pernicious anemia is less frequent in Koreans than in Western populations; however, the clinical features of this disorder in Koreans do not differ from those of Western cases.
Adult ; Aged ; Anemia, Pernicious/complications/*diagnosis/epidemiology ; Asian Continental Ancestry Group ; Autoimmune Diseases/complications/epidemiology ; Female ; Gastrointestinal Diseases/complications/drug therapy/epidemiology ; Helicobacter Infections/diagnosis ; Helicobacter pylori ; Humans ; Isoantibodies/blood ; Male ; Middle Aged ; Nervous System Diseases/complications/epidemiology ; Parietal Cells, Gastric/immunology ; Republic of Korea/epidemiology ; Retrospective Studies ; Vitamin B 12/blood/therapeutic use

IgG4-related disease (IgG4-RD) is a novel and rare autoimmune disease entity. Elevated serum IgG4 level is strongly suggestive of IgG4-RD. But it is still unknown whether serum IgG4 elevation commonly occurs in other autoimmune diseases. In this study, the serum IgG4 levels were detected by an established enzyme-linked immunosorbent assay (ELISA) in a variety of autoimmune diseases including systemic lupus erythematosus (SLE), Sjogren's syndrome (SS), polymyositis or dermatomyositis (PM/DM) and IgG4-RD. To evaluate the reliability of this ELISA system, some of our samples were sent to a lab in Kanazawa Medical University, Japan, and detected by using the nephelometric assay. The results showed that our findings were consistent with theirs. Moreover, it was found that the serum IgG4 levels were 0.23±0.16 g/L in 53 healthy controls, 0.16±0.15 g/L in 103 SLE patients, 0.22±0.18 g/L in 41 SS patients and 0.40±0.32 g/L in 21 PM/DM patients. No significant difference in the serum IgG4 level was observed among these groups (P>0.05). The serum IgG4 levels of two cases of IgG4-RD were 1.63 and 4.65 g/L respectively, and both decreased markedly after treatment with glucocorticoids. These data indicated that this established ELISA system can be used for detecting serum IgG4 levels. Elevated serum IgG4 levels help diagnose IgG4-RD and evaluate the curative effect of this condition rather than other autoimmune diseases.
Autoimmune Diseases ; blood ; diagnosis ; immunology ; Enzyme-Linked Immunosorbent Assay ; methods ; Humans ; Immunoglobulin G ; blood

Autoimmune Diseases ; diagnosis ; immunology ; pathology ; surgery ; Humans ; Immunoglobulin G ; blood ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pancreatectomy ; Pancreatitis ; diagnosis ; immunology ; pathology ; surgery

No abstract available.
Autoimmune Diseases/*diagnosis/drug therapy/immunology ; Azathioprine/therapeutic use ; Common Bile Duct/pathology ; Emphysema ; Fibrosis ; Humans ; Immunoglobulin G/blood ; Immunosuppressive Agents/therapeutic use ; Lung/*radiography ; Male ; Middle Aged ; Pancreatitis/*diagnosis/drug therapy/immunology ; Stents ; Tomography, X-Ray Computed

Autoimmune pancreatitis (AIP) has two distinct subsets. Type 1 AIP or lymphoplasmacytic sclerosing pancreatitis is systemic disease with the elevation in serum levels of the IgG4. Type 2 AIP, also called duct-centric pancreatitis, features granulocyte epithelial lesions with duct obstruction in the pancreas without systemic involvement. Here, we report a case of type 2 AIP diagnosed by pathology, which is the first report in Korea. The case is a 56-year-old woman who presented with anorexia and vomiting. Computed tomography revealed mass-like lesion in the pancreatic head and the compression of the distal common bile duct and the head portion of the main pancreatic duct. Serum levels of the IgG4 were normal. Histologic examination revealed a dense neutrophil infiltration in the pancreatic parenchyme associated with extensive fibrosis, thereby confirming the diagnosis of type 2 AIP. The abnormalities in the clinical, laboratory, and radiological findings improved after oral steroid treatment.
Autoimmune Diseases/blood/immunology/*pathology ; Female ; Fibrosis ; Humans ; Immunoglobulin G/blood ; Magnetic Resonance Imaging ; Middle Aged ; Neutrophils/immunology ; Pancreas/pathology ; Pancreatitis/*drug therapy/immunology/pathology ; Steroids/*therapeutic use ; Tomography, X-Ray Computed