Myelin Oligodendrocyte Glycoprotein Antibody Disease (MOGAD) is a spectrum of diseases, including optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, and cerebral cortical encephalitis. In addition to distinct clinical, radiological, and immunological features, the infectious prodrome is more commonly reported in MOGAD (37–70%) than NMOSD (15–35%). Interestingly, pediatric MOGAD is not more aggressive than adult-onset MOGAD, unlike in multiple sclerosis (MS), where annualized relapse rates are three times higher in pediatric-onset MS. MOGAD pathophysiology is driven by acute attacks during which T cells and MOG antibodies cross blood brain barrier (BBB). MOGAD lesions show a perivenous confluent pattern around the small veins, lacking the radiological central vein sign. Initial activation of T cells in the periphery is followed by reactivation in the subarachnoid/perivascular spaces by MOG-laden antigen-presenting cells and inflammatory CSF milieu, which enables T cells to infiltrate CNS parenchyma. CD4+ T cells, unlike CD8+ T cells in MS, are the dominant T cell type found in lesion histology. Granulocytes, macrophages/microglia, and activated complement are also found in the lesions, which could contribute to demyelination during acute relapses. MOG antibodies potentially contribute to pathology by opsonizing MOG, complement activation, and antibody-dependent cellular cytotoxicity. Stimulation of peripheral MOG-specific B cells through TLR stimulation or T follicular helper cells might help differentiate MOG antibody-producing plasma cells in the peripheral blood. Neuroinflammatory biomarkers (such as MBP, sNFL, GFAP, Tau) in MOGAD support that most axonal damage happens in the initial attack, whereas relapses are associated with increased myelin damage.

The FOXN1 gene mutation is a unique disorder that causes the nude severe combined immunodeficiency phenotype. In patients with severe combined immunodeficiency, hematopoietic stem cell transplantation (HSCT) is life-saving if performed earlier. Thymic transplantation is the curative treatment for FOXN1 deficiency because the main pathology is thymic stromal changes. In this report, we describe the clinical features of a Turkish patient with a homozygous FOXN1 mutation treated with HSCT from his human leukocyte antigen-matched sibling. On follow-up, he showed Bacille Calmette Guerin adenitis and was evaluated as having immune reconstitution inflammatory syndrome. By presenting our patient, we aimed to draw attention to the development of HSCT and subsequent immune reconstitution inflammatory syndrome as a treatment option in patients with FOXN1 deficiency.

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BackgroundRecurrent pericarditis (RP), however the etiology is unknown in the majority, may be observed in autoinflammatory diseases such as familial Mediterranean fever (FMF) and tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS). Colchicine has long been used to treat pericarditis related to FMF as well as patients with idiopathic recurrent pericarditis (IRP) (1). Alternative treatments have been reported for cases with colchicine resistant RP.Objectives:ObjectivesThe aim is to present our data regarding anakinra treatment in recurrent pericarditis either related to FMF or idiopathic, who are resistant to colchicine.MethodsPatients who had recieved anakinra with a diagnosis of recurrent pericarditis either idiopathic or secondary to FMF followed in our autoinflammatory disease center between 2014-2018 are evaluated retrospectively. From patients’ files, demographic and clinical features, response to other treatment approaches such as NSAID, corticosteroid, colchicine, were evaluated. All patients have been genetically screened for monogenic autoinflammatory diseases (MEFV, TRAPS, MVK, NLRP3, NOD2). Patients who had at least 3 attacks were administered anakinra 100 mg/day. Therapeutic efficacy, as well as side effect profile of anakinra is also assessed.ResultsThere were 5 patients (3 male and 2 female) with the diagnosis of RP, 1 was related to FMF and 4 were idiopathic. The mean age of the group was 28±8 (range 20-40). All patients diagnosed with IRP were negative for autoinflammatory genetic screening, while a MEFV variant (K695R het.) was detected in the FMF patient. Median duration of follow-up was 30 months (range 11-129). In table 1, demographic and clinical features are given. The median number of recurrence was 6 before anakinra treatment. No episode of pericarditis was observed in any of the patients after the initiation of anakinra. The response to anakinra persisted even after the dose was reduced to 100 mg/alternate day in 3 patients, however in 2, recurrence of pericarditis was observed and anakinra was escalated to initial dose. It was possible to discontinue corticosteroid treatment in all patients. Currently all patients continue anakinra treatment. No side effect including injection site reaction, has been observed by now.Table 1 Demographic features and treatment response during anakinra therapyPatient ID #AgeSexDiagnosisDuration of pericarditis follow-up (mo)Prior medicationsNumber of recurrences before anakinraAnakinra treatment duration (mo)Time to corticosteroid discontinuation (mo)Number of recurrences after daily dose of anakinra 1* 23 M IRP 129 Colchicine, NSAIDs, CS, HCQ 6 52 9 No 2 32 F IRP 128 Colchicine, NSAIDs 7 4 NA No 3* 40 F IRP 21 Colchicine, CS 6 8 1 No 4 20 M IRP 11 Colchicine, CS 3 8 2 No 5 25 M FMF 30 Colchicine, CS 5 15 1 NoF: Female, M: Male, CS: Corticosteroid, HCQ: Hydroxychloroquine, NA: Not applicable*Dose tapering was unsuccessful in these patientsConclusionAnakinra seems to be a safe and effective treatment approach for colchicine resistant recurre...