- A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene. [Case Reports]
- AHActa Haematol 2019 Jul 12; :1-5
- Bernard-Soulier syndrome (BSS) is an extremely rare autosomal recessive bleeding disorder clinically characterized by macrothrombocytopenia and a mucocutaneous bleeding tendency. A 1-year-old Chinese…
Bernard-Soulier syndrome (BSS) is an extremely rare autosomal recessive bleeding disorder clinically characterized by macrothrombocytopenia and a mucocutaneous bleeding tendency. A 1-year-old Chinese patient who was born to consanguineous parents was diagnosed with early onset of BSS. Gene sequencing and bioinformatics analysis were conducted. We identified a novel homozygous missense mutation (c.790T>C) in the GP1BAgene that causes an amino acid residue substitution of a cysteine with an arginine that might have a deleterious effect on the protein function as predicted by bioinformatics analysis. If a patient has clinical manifestations that include recurrent mucocutaneous bleeding, a mean platelet volume and platelet-large cell ratio above normal levels, and giant platelets on a peripheral smear and has consanguineous parents, a diagnosis of BSS can be suspected. In these situations, gene sequencing for mutations in the GPIb-IX-V complex is necessary.
- Dermatoscopic and Mucoscopic Features of Lesions in Patients with Behcet's Disease. [Journal Article]
- ARActa Reumatol Port 2019 Jul 01
- CONCLUSIONS: It seems that these findings have no specific clues for the diagnosis of BD, but our study is the first study in this field and the findings may give way to further investigations.
- Management of non-renal non-neurologic persistent lupus activity in real world patients from Argentina. [Journal Article]
- LLupus 2019 Jul 12; :961203319861687
- Management of systemic lupus erythematosus patients is challenging because of disease heterogeneity. Although treatment of renal nephritis is more standardized, treating non-renal lupus activity rema…
Management of systemic lupus erythematosus patients is challenging because of disease heterogeneity. Although treatment of renal nephritis is more standardized, treating non-renal lupus activity remains controversial. Our objective was to identify non-renal, non-neurologic persistent active systemic lupus erythematosus patients in our cohort and described therapeutic behaviors in them. All systemic lupus erythematosus patients (American College of Rheumatology and/or Systemic Lupus Erythematosus International Collaborating Clinics criteria) seen at a university hospital between 2000 and 2017 were included and electronic medical records manually reviewed. Persistent lupus activity was defined as a patient with a Systemic Lupus Erythematosus Disease Activity Index score ≥ 6 (without renal and central nervous system manifestations) despite being on a stable treatment regimen for ≥ 30 days. Stable treatment could include prednisone alone (7.5-40 mg/d) or combined with antimalarial drugs and immunosuppressant therapies. A total of 257 lupus patients were included, 230 females (89.5%, 95% confidence interval 85.1-92.7), mean age at diagnosis 29.9 years (SD 16.4). After a median cohort follow-up of 5.7 years (interquartile range 2.4-10.2), 14 patients (5.4%, 95% confidence interval 3.2-9.0) showed persistent non-renal non neurologic lupus activity, with a median disease duration of 11.3 years (interquartile range 3.6-19.4). At that time, 12/14 (85.7 %, 95% confidence interval 52.6-97.0%) had low complement and 11/14 (78.6 %, 95% confidence interval 46.5-93.9%) had positive antiDNA antibodies. The main reasons for being refractory were mucocutaneous disease (50%, 95% confidence interval 23.5-76.5) and arthritis (42.9%, 95% confidence interval 18.5-71.2). Therapeutic choices after being refractory were: only increasing corticosteroid dose in one patient, starting rituximab in four, belimumab in eight, and in one mycophenolate and rituximab; with good response in all of them. In conclusion, 5.4% of systemic lupus erythematosus patients in our cohort were considered to have non-renal non neurologic persistent lupus activity, with mucocutaneous and arthritis the main manifestations. In total, 92.8% of these patients started a biologic treatment at this point (rituximab or belimumab).
- The Effect of Mycophenolate Mofetil on Non-Renal Manifestations in Systemic Lupus Erythematosus: Results from Korean Lupus Network Registry. [Journal Article]
- JKJ Korean Med Sci 2019 Jul 15; 34(27):e185
- CONCLUSIONS: This study showed that MMF might be a beneficial treatment for hematologic abnormalities, especially leukopenia, in SLE.
- Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2. [Journal Article]
- JCJ Clin Immunol 2019 Jul 10
- CONCLUSIONS: We describe an adolescent boy with recurrent oral candidiasis and bronchiectasis due to a novel mutation in TRAF3IP2 gene, not reported to date. This is also the only second report of CMC due to ACT1 deficiency.
- Functional Immunoregulation by Heme Oxygenase 1 in Juvenile Autoimmune Diseases. [Journal Article]
- CGCurr Gene Ther 2019 Jul 09
- Autoimmune disease is an inflammatory disease in which the human body's autoimmune system attacks normal cells, resulting in decreased immune function and abnormal immune function, which eventually l…
Autoimmune disease is an inflammatory disease in which the human body's autoimmune system attacks normal cells, resulting in decreased immune function and abnormal immune function, which eventually leads to tissue damage or organ dysfunction. It is estimated that 5-8% of the world's population is at risk of autoimmune diseases. In the field of medicine, especially in pediatrics, the research data of autoimmune diseases are still insufficient. Some prevalent juvenile autoimmune diseases, such as schoenlein-henoch purpura (HSP), systemic juvenile idiopathic arthritis (SJIA), mucocutaneous lymph node syndrome (MCLS) and autoimmune encephalitis (AE) arouse considerable public concern. A number of recent studies found that heme oxygenase-1 (HO-1), an enzyme that functions in heme degradation, presents a critical role in pathogenesis and may function in regulating the autoimmune system. Firstly, it could promote the differentiation of T lymphocyte to CD4+CD25+ Treg and may have an association with the varied proportion of Th1/Th2 and Th17/Treg cytokines as well. Secondly, HO-1 is prove to function in regulating the immune system through the secretion of cytokines such as TGF and IL. Moreover, increasing the expression of HO-1 can also improve vascular function by increasing antioxidant levels. As a result, HO-1 may provide the theoretical basis and guiding strategy for clinical treatment.
- Sporadic Peutz-Jeghers syndrome: a rare cause of intussusception in a toddler with no medical history. [Case Reports]
- OMOxf Med Case Reports 2019; 2019(6):omz051
- Peutz-Jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastrointestinal tract associated with melanocytic mucocutaneous hyperpigmentation. This research paper examines the case of …
Peutz-Jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastrointestinal tract associated with melanocytic mucocutaneous hyperpigmentation. This research paper examines the case of an 18-month-old Syrian female who had been diagnosed with intussusception. The patient underwent laparotomy, and multiple small bowel polyps were found to act as the lead point. For this reason, small bowel resection (~15 cm), with end-to-end anastomosis, were performed. Although PJS diagnosis was histopathologically confirmed, the patient had no pigmented lesions on the face, the lower lip or the buccal mucosa and neither had any history of hospitalization or family history of the disease. This case was examined and is reported in the present study because PJS is rarely present at this early age when significant medical history is lacking.
- Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases. [Journal Article]
- ARAnn Rheum Dis 2019 Jul 05
- CONCLUSIONS: This study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.
- Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report. [Journal Article]
- MMedicine (Baltimore) 2019; 98(27):e16381
- CONCLUSIONS: Early onset of PJS presenting with polys is quite rare since they require time for their development manifesting usually after the first decade of life. Close monitoring is essential for PJS in order to prevent potential complications and early detect the development of related malignancies.
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- Development of a Desmocollin-3 Active Mouse Model Recapitulating Human Atypical Pemphigus. [Journal Article]
- FIFront Immunol 2019; 10:1387
- Pemphigus vulgaris (PV) is a life-threatening mucocutaneous autoimmune blistering disease. It is often associated with autoantibodies to the desmosomal adhesion proteins Desmoglein 3 (DSG3) and Desmo…
Pemphigus vulgaris (PV) is a life-threatening mucocutaneous autoimmune blistering disease. It is often associated with autoantibodies to the desmosomal adhesion proteins Desmoglein 3 (DSG3) and Desmoglein 1 (DSG1). Recently, auto-antigens, such as desmocollins and others have been described in PV and in atypical pemphigus forms such as Pemphigus Herpetiformis (PH), Pemphigus Vegetans (PVeg), and Paraneoplastic Pemphigus (PP). Desmocollins belong to a cadherin subfamily that provides structure to the desmosomes and play an important role in cell-to-cell adhesion. In order to verify the pathogenic activity of anti-Desmocollin 3 (DSC3) antibodies, we developed an active disease model of pemphigus expressing anti-DSC3 autoantibodies or anti-DSC3 and anti-DSG3 antibodies. This approach included the adoptive transfer of DSC3 and/or DSG3 lymphocytes to Rag2-/- immunodeficient mice that express DSC3 and DSG3. Our results show that the presence of anti-DSC3 auto-antibodies is sufficient to determine the appearance of a pathological phenotype relatable to pemphigus, but with features not completely super-imposable to those observed in the DSG3 active model, suggesting that the DSC3 active model might mimic the atypical pemphigus. Moreover, the presence of both anti-DSC3 and anti-DSG3 antibodies determines a more severe phenotype and a slower response to prednisolone. In conclusion, we have developed an adult DSC3 pemphigus mouse model that differs from the DSG3 model and supports the concept that antigens other than desmogleins may be responsible for different phenotypes in human pemphigus.