This study describes the genotype distribution of Pneumocystis jiroveci in 79 respiratory samples obtained from 15 patients with acquired immunodeficiency syndrome (AIDS) with P. jiroveci pneumonia and 64 human immunodeficiency virus-negative subjects with different chronic pulmonary diseases. The genotyping was based in analysis of 2 independent genetic loci: the mitochondrial large subunit ribosomal RNA (mt LSU rRNA) fragment (assessed by direct sequencing) and the gene for dihydropteroate synthase (DHPS; assessed by restriction fragment-length polymorphism). The mt LSU rRNA analysis revealed the presence of 3 different polymorphisms for both populations. The major genotype, 85C/248C, was found to be significantly higher in patients with AIDS and P. jiroveci pneumonia than in patients with pulmonary disease. The rate of genotypes 85A/248C and 85T/248C was similar in both groups. The analysis of DHPS genotypes assesses the prevalence of its 4 possible genotypes, with 35.5% of genotypes related to sulfa resistance. The data suggest a common source of infection between both groups.

BackgroundAntisynthetase syndrome (ASS) is characterised by the presence of myositis, arthritis, interstitial lung disease (ILD), fever, Raynaud’s phenomenon and mechanical’s hand, in the presence of antisynthetase autoantibodies (AA), the most frequent being anti-Jo1, anti-PL7 and anti-PL12. An association between ASS and anti-Ro52 with increased ILD has been described and it is believed that the presence of both antibodies is accompanied by a more severe ILD.ObjectivesTo describe the clinical and analytical characteristics of a cohort of patients with ASS. To analyse the lung involvement in this type of patient and to determine the possible relationship between the different subtypes of ILD and the presence of anti-Ro52.MethodsRetrospective descriptive study of patients treated in our Hospital (2006–2017), with AA and at least 2 clinical characteristics. The data was obtained through the review of medical records.Variables analysed:age, sex, age, smoking, clinical presentation, diagnosis of ASS, associated neoplasia and paraneoplastic syndrome (PS)(neoplasia 3 years before or after the diagnosis of ASS), muscle enzymes (CK and aldolase), autoimmunity, glucocorticoids (GC), immunosuppressants (IS), diagnosis of ILD, HRCT pattern (High Resolution Computed Tomography) and respiratory function tests (RFT) at the beginning of ILD.ResultsWe included 27 patients (20 women), mean age 61±13 years. 7.4% smokers and 18.5% ex-smokers. 88.8% were anti-Jo1,7.4% anti-PL12% and 3.7% anti-PL7. Anti-Ro52 present in 18 patients. The most common clinical presentation:ILD 88% (59% had Ro52), followed by myositis 85% (40% are dermatomyositis), arthritis 81%, mechanic’s hand 51%, fever 37% and Raynaud’s phenomenon 25%. The classic triad (arthritis, myositis, ILD) was present in 16 patients. Three patients presented neoplasia in the course of the disease, being identified as PS. Elevation of CK in 70% and aldolase in 74%. 96% of patients have been treated with GC and IS.The HRCT patterns were:non-specific interstitial pneumonia (NSIP)(66%), usual interstitial pneumonia (UIP) (29%),organised cryptogenic pneumonia (OP)(4%), baseline RFT were performed in 19 patients. Diagnosis of ASS and ILD, both entities appear at the same time in 6 patients, in 3 patients the ILD appears before and in 14 after. In these, the median duration (range) of the ASS until the diagnosis of ILD was 1 year (0–1).There is no relationship between the HRCT and anti-Ro52 patterns (chi-square considering the exact distribution p=0.892), nor between the ILD and anti-Ro52 (Fisher exact test p=0.999).ConclusionsOur results, in general, agree with what is published in the literature. Three patients have an uncommon presentation of ASS, with a diagnosis of ILD prior to myopathy (in most of the published cases, myositis precedes or coincides with the onset of IDL), and it is important to include ASS in the differential diagnosis of ILD. In our cohort, the association between ILD and anti-Ro52 has not been demonstrated, nor among the different subtypes of ILD to Ro52. Ther...

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BackgroundThe choice of the initial biological therapy for patients with suspected autoinflammatory diseases and not conclusive genetic test remains challenging.ObjectivesTo assess the clinical response to the initial biological therapy in pediatric patients with suspected autoinflammatory disease with no genetic diagnosis.MethodsWe retrospectively reviewed the clinical charts of patients followed in our clinic who started empirical biological therapy after being diagnosed with suspected autoinflammatory disease(sAID) due to the intensity of their symptoms and no response to colchicin or FAMEs. Next generation sequencing using an immune deficiency/dysregulation(115 genes) and autoinflammatory panel(12 genes) was negative/inconclusive in all patients.ResultsWe identified 9 patients:6/9 were male, median age at fever onset 1.33 years old IQR(0.46-4), age at diagnosis of sAID 3.8 years old IQR(1.75-7). Clinical presentation included fever(9/9), abdominal pain and arthromyalgia(7/9), aphthous(6/9), headache, rash and adenopathy(5/9), delayed growth(4/9), tonsillitis and pericarditis(3/9) as well as diarrhea and pleuritis(2/9). One patient presented with stroke, cutaneous lesions, vasculopathy and haemolytic uraemic syndrome and 1 patient with amyloidosis and secondary hepatosplenomegaly. None of the children suffered from uveitis or meningitis. The flares lasted a median of 14 days(IQR 8-20). Two patients had persistent symptoms. Their mean/median lab values are shown at table. 4/9 patients had homozygous mutations with uncertain significance, heterozygous mutations or polymorphism but their symptoms or familiar study was not suggestive of the corresponding AID. One patient had an heterozygous mutation in MEFv (p.P3696,p.R408q) and also a CECR1 heterozygous mutation with uncertain significance, one patient had pR92Q heterozygous mutation in TNFRSF1A, one patient had MEFv pR202Q homozygous mutation, other patient had a NOD-2 heterozygous mutation and the patient with amyloidosis hadINO80 deficiency and a NOD2 mutation (p.A918D). All patients responded to steroid therapy; subsequently 8/9 received anti IL-1Receptor kineret as first biological therapy and 1/9 with suspected vasculopathy received anti-TNF. Response to IL-1R antagonist was complete in 3/8 and partial in 4/8 children;1/8 showed no response. 2/8 patients were switched to anti-TNF: One each to etanercept and Infliximab with good response. The patient with amyloidosis was changed to anti IL-6R with incomplete response but clear improvement compared to anti Il-1R response. The patient with suspected vasculopathy and initial anti-TNF treatment had partial response with no recurrent stroke but persistent skin lesions.ConclusionAn important group of patients with sAID lack genetic confirmation. Empirical use of IL-1R antagonist is promising but not effective in all patients as it was observed in our case series,where 5/8 children showed partial or no response,3/5 needing a second biologic treatment in form of anti-TNF due to persistent moderate-severe symptoms.A m...