Objective
The study aims to obtain more information about the immune deficit of common variable immunodeficiency (CVID) patients.
Materials and Methods
A new real-time PCR assay was used to quantify ...T and B lymphocyte mobilization from the production and maturation sites through the detection of T cell receptor excision circles (TRECs) and kappa-deleting recombination circles (KRECs) and to allow the estimation of the average number of B cell divisions. T and B lymphocyte subsets were analyzed by flow cytometry.
Results
The number of TREC
+
lymphocytes, which depends on age and gender, was significantly reduced in CVID patients. Similarly, KREC concentration was lower than in controls. Classification of patients according to the percentage of memory switched B cells showed that patients belonging to MB2 group and therefore with conserved B cell maturation have the lowest new B cell output but increased average peripheral divisions, leading to the highest B cell number.
Conclusions
TREC and KREC quantification can be helpful for a more complete and informative understanding of a heterogeneous disease such as CVID.
Introduction
The aim of this paper is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry for paediatric and adult patients with ...non-infectious uveitis (NIU).
Methods
This is a physician-driven, population- and electronic-based registry implemented for both retrospective and prospective collection of real-world demographics, clinical, laboratory, instrumental and socioeconomic data of patients with uveitis and other non-infectious inflammatory ocular diseases recruited through the AIDA Network. Data recruitment, based on the Research Electronic Data Capture (REDCap) tool, is thought to collect standardised information for real-life research and has been developed to change over time according to future scientific acquisitions and potentially communicate with other similar instruments. Security, data quality and data governance are cornerstones of this platform.
Results
Ninety-five centres have been involved from 19 countries and four continents from 24 March to 16 November 2021. Forty-eight out of 95 have already obtained the approval from their local ethics committees. At present, the platform counts 259 users (95 principal investigators, 160 site investigators, 2 lead investigators, and 2 data managers). The AIDA Registry collects baseline and follow-up data using 3943 fields organised into 13 instruments, including patient’s demographics, history, symptoms, trigger/risk factors, therapies and healthcare utilization for patients with NIU.
Conclusions
The development of the AIDA Registry for patients with NIU will facilitate the collection of standardised data leading to real-world evidence and enabling international multicentre collaborative research through inclusion of patients and their families worldwide.
Aim of this study was to search for any difference in the outcome of patients with adult onset Still's disease (AOSD) treated with anakinra (ANK) in relation with the interval between disease onset ...and the start of anti-interleukin(IL)-1 treatment and according with the different lines of ANK treatment.
One hundred and forty-one AOSD patients treated with ANK have been retrospectively assessed. Statistically significant differences (
< 0.05) were analyzed in the frequency of ANK effectiveness, primary or secondary inefficacy to ANK and rate of resolution of clinical and laboratory AOSD manifestations after 3, 6, and 12 months since ANK treatment according with different lines of treatment and different times between AOSD onset and start of ANK.
No significant differences were identified in the ANK effectiveness and frequency of primary or secondary inefficacy for patients starting ANK within 6 months (
= 0.19,
= 0.14, and
= 0.81, respectively) or 12 months (
= 0.37,
= 0.23, and
= 0.81, respectively) since AOSD onset compared with patients starting ANK thereafter; no significant differences were identified in ANK effectiveness and primary or secondary inefficacy according with different lines of ANK treatment (
= 0.06,
= 0.19, and
= 0.13, respectively). Patients starting ANK within 6 and 12 months since AOSD onset showed a significantly quicker decrease of erythrocyte sedimentation rate and C-reactive protein than observed among patients undergoing ANK treatment after 6 and 12 months. The number of swollen joints at the 3 month follow-up visit was significantly lower among patients undergoing ANK within 6 months since AOSD onset (
= 0.01), while no significance was identified at the 6 and 12 month assessments (
= 0.23 and
= 0.45, respectively). At the 3 and 6 month visits, the number of swollen joints was significantly higher among patients previously treated with conventional and biological disease modifying anti-rheumatic drugs (DMARDs) compared with those formerly treated only with conventional DMARDs (
< 0.017).
Clinical and therapeutic outcomes are substantially independent of how early ANK treatment is started in AOSD patients. However, a faster ANK effectiveness in controlling systemic inflammation and resolving articular manifestations may be observed in patients benefiting from IL-1 inhibition as soon as after disease onset.
To evaluate the prevalence of patients with Systemic Sclerosis (SSc) in Valtrompia in northern Italy.
Patients were recruited from the records of 28 general practitioners (GPs) whose practices ...covered 38,348 individuals aged over 14 years, and from a public Hospital database covering all patients evaluated in community clinics, day-hospitals and inpatient units of the area. Crossing data from the two sources revealed a 100% concordance. Rheumatological re-evaluation confirmed a diagnosis of SSc in 13 patients (11 female, 2 male; 2 diffuse SSc, 11 limited SSc), fulfilling ACR criteria in 10 cases and Le-Roy-Medsger 2001 criteria in 3 further cases.
Prevalence of SSc was estimated at 33.9 cases among 100,000 adults aged over 14 years (95% confidence intervals: 15.5-52.3).
This rather high prevalence reflects both changes in the diagnostic criteria for SSc including milder forms of disease, and recruitment of these mild cases due to active collaboration between GPs and specialists.
If a woman suffers from autoimmune disease (AD), several factors can affect pregnancy or neonatal outcome: repeated spontaneous pregnancy losses (frequently related to antiphospholipid antibodies ...(aPL)), neonatal lupus with complete congenital heart block (CHB) (linked to transplacental passage of IgG anti Ro/SS-A antibodies) and the disease activity itself that can affect the mother, the pregnancy and fetal outcome. If appropriately managed, the antiphospholipid syndrome (APS) is “one of the few tractable causes of pregnancy losses.” A recent case control study, on babies from APS-mothers and healthy mothers, did not show any difference in the occurrence of neonatal complications. There are few data about the long-term outcome of babies born to patients with AD. We recently reported increased occurrence of learning disabilities in children born to aPL positive mothers with systemic lupus erythematosus (SLE).
The modern management of pregnancy in patients with AD includes the treatment of disease flares, using drugs effective but safe for fetus. Corticosteroids and some immunosuppressive drugs can be used in pregnancy to control maternal disease.
A prolonged fetal exposure to dexamethasone was reported to impair cerebral development, but we recently studied 6 children, born to patients treated with dexamathasone because of CHB, showing a normal intelligence quotient. The last 10-year experience shows that fetal exposure to antimalarial drugs should not be regarded as an important risk factor for gestational nor neonatal complications. However, information about long-term outcome of children exposed to immunosuppressive drugs “in utero” are still lacking and more efforts are needed in this research area.
PurposeTo report increased corneal bioavailability of allogenic serum when used in combinations with Therapeutic Hyper-CL™ soft contact lens in a patient with severe Sjögren's syndrome-associated dry ...eye. ObservationsA 57-year-old woman with a medical history of bilateral severe Sjögren's syndrome-associated dry eye and previous amniotic membrane patch for autoimmune corneal perforation in her left eye was referred for left eye recurrence of progressive melting and pending perforation. After manual corneal trephination, full thickness transplant and sutured amniotic membrane patch, a Therapeutic Hyper-CL™ soft contact lens (EyeYon Medical, Ness Tziona, Israel) was fit. The patient was commenced in the left eye with topical corticosteroid, antibiotic, and allogenic serum eye drops. In the right eye the patient had silicone hydrogel bandage contact lens and was under same treatment of the left eye for previous endothelial keratoplasty. In order to evaluate the efficacy and increased corneal availability of drugs provided by Therapeutic Hyper-CL™ compared with silicone hydrogel soft contact lens, anterior segment OCT was performed. Conclusions and importanceThe anterior segment OCT showed a thicker meniscus of fluid and possibly subsequent increase of trophic factors bioavailability in left eye compared with right eye. Therefore, in case of severe and refractory dry-eye disease the combination of Therapeutic Hyper-CL™ and serum eye drops may be representing a valid therapeutic approach.
Objective
To assess the true prevalence of congenital complete heart block (CCHB) in infants of anti‐Ro/SSA–positive women known to have connective tissue disease (CTD) and, secondarily, to evaluate ...the prevalence of other electrocardiographic abnormalities in these newborns at birth.
Methods
A prospective study was conducted in 4 referral hospitals. One hundred anti‐Ro/SSA–positive mothers were followed up before they became pregnant and during the index pregnancy. Counterimmunoelectrophoresis and immunoblotting were used to test for antibodies to extractable nuclear antigens.
Results
Of the 100 women with anti‐Ro/SSA antibodies, 2 had infants who developed CCHB in utero (2%). The CCHB was detected at 22 weeks and 20 weeks, respectively. One of the 2 mothers had primary Sjögren's syndrome (SS), and the other had undifferentiated CTD (UCTD). No case of CCHB occurred among the infants of 53 mothers with systemic lupus erythematosus (SLE). No fetal death occurred due to CCHB. In 2 centers, electrocardiography was recorded in 24 unselected newborns, and 4 were found to have sinus bradycardia.
Conclusion
The prevalence of CCHB in newborns of prospectively followed up women already known to be anti‐Ro/SSA positive and with known CTD was 2%. This finding is useful with regard to preconception counseling of these women. The risk of delivering an infant with CCHB may be higher in mothers with primary SS or UCTD than in those with SLE. Additional electrocardiographic abnormalities such as sinus bradycardia and prolongation of the QT interval may be present in their children.
This chapter discusses the women affected by systemic autoimmune diseases. Patients affected by systemic lupus erythematosus (SLE) are discouraged from becoming pregnant. It is observed that the ...disease can worsen during gestation; high disease activity has profound implications on fetal outcome. Owing to the increasing knowledge of pathophysiologic mechanisms and the development of clinics with combined obstetric and medical care, pregnancy is now a nearly normal event in women with SLE and other autoimmune diseases. Pregnancies in this group of patients remain at high risk, even though now many women do not experience major complications. Potential adverse events include renal crisis in systemic sclerosis (SSc), thrombosis, miscarriage, and preeclampsia in patients with anti-phospholipid antibodies (aPL) with or without SLE, neonatal lupus in babies born to mothers with anti-Ro/SSA antibodies, independent of maternal disease. Some drugs that are used to care for the mothers can interfere with fetal outcome.
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