Increasing physicians' awareness is one of the main ways to improve early diagnosis of rare diseases. A survey among physicians of different specialties to evaluate the knowledge about primary immunodeficiencies (PID) was conducted in 2016 and in 2019 -before and after the implementation of an educational program. We compare responses from 82 doctors who participated in the 2016 survey, and 67 doctors who have taken part in the survey in 2019: pediatricians, general practitioners / family physicians and physicians of pediatric sub specialties. The percentage of correct answers to all survey questions after the implementation of the educational program has significantly increased (79.0% in 2019 versus 58.3% in 2016, P<0.0001). This increase in the percentage of correct answers was noted among the surveyed doctors of all specialties. Particular progress was found among pediatricians, who have achieved more than 80% of correct answers. In 2019 the doctors demonstrated better knowledge on the warning signs of PID and specific features of Nijmegen breakage syndrome, DiGeorge syndrome and ataxia-telangiectasia syndrome. Thus, the implementation of an educational program improved physicians' awareness of PIDs, and will contribute to early detection of PIDs and their medical care.

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L'évaluation des connaissances des médecins résidents concernant les immunodéficiences primaires Introduction. Le diagnostic précoce des immunodéficiences primaires (IDP) prévient le développement de complications et améliore la qualité de la vie des enfants avec les IDP. Nombre de IDP sont non diagnostiquées ou diagnostiquées incorrectement. L'augmentation de la compétence des médecins sur ce problème est très importante. L'objet de l'étude était l'évaluation des connaissances des médecins résidents des professions médicales de différentes spécialités sur les immunodéficiences primaires. Méthodes. Des médecins résidents de différentes spécialités ont été interrogés sur leurs compétences concernant l'IDP. Les médecins résidents de l'Université Médicale d'Etat de Ternopil de I. Horbatchevski, Ukraïne ont participé à cette recherche. Il y avait 93 participants, y compris 17 pédiatres, 27 médecins de la pratique générale en médecine familiale (PGMF), 39 thérapeutes, 10 chirurgiens. L'enquête a prévu les réponses à 25 questions spécialement préparées.

Introduction: Primary immunodeficiencies (PID) are genetic defects of the immune system that result in chronic, serious, and often life-threatening infections if they are not diagnosed and treated. Worldwide, from 70 to 90% of PID sufferers remain undiagnosed because of poor awareness. Early diagnosis is very important for adequate prevention and management of PID infectious complications and may improve the life quality of patients with PID. Aim of the study: The aim of this study was to assess the awareness of physicians of different specialties about the signs of primary immunodeficiency in children and adults. Material and methods: A survey among physicians of different specialties on awareness of PID was conducted. The study involved physicians of the Ternopil region of Ukraine. Of 103 participants 42 were paediatricians, 25 general practitioners/family physicians, eight internists, 13 paediatric surgical specialists, and 15 physicians of paediatric sub-specialties. The survey consisted of a questionnaire containing 25 questions. Results: Sixty-one (59.2%) physicians gave more than 50% of correct answers. The percentage of correct answers to the questions about warning signs of PID in children was 66.1% among paediatricians and 64% among general practitioners, in adults-66.7% and 72%, respectively. The lowest knowledge of PID was about the specific signs of PID, more often concerning verification of Nijmegen breakage syndrome, ataxia-telangiectasia, and DiGeorge syndrome. Conclusions: This study has revealed poor awareness about PID among physicians in the Ternopil region of Ukraine. There was no significant difference in the percentages of correct answers among the first-contact physicians (paediatricians, general practitioners/family physicians) and paediatric sub-specialists. There is a significant need for educational programs to improve physicians' knowledge on PID. Implementation of the model of combined physician education and public awareness may improve detection of PID in children in the early stages.

Severe combined immunodeficiency (SCID) is a group of inborn errors of immunity (IEI) characterized by severe T-and/or B-lymphopenia. At birth, there are usually no clinical signs of the disease, but in the first year of life, often in the first months the disease manifests with severe infections. Timely diagnosis and treatment play a crucial role in patient survival. In Ukraine, the expansion of hemostatic stem cell transplantation and the development of a registry of bone marrow donors in the last few years have created opportunities for early correction of IEI and improving the quality and life expectancy of children with SCID. For the first time in Ukraine, we initiated a pilot study on newborn screening for severe combined immunodeficiency and T-cell lymphopenia by determining T cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). The analysis of TREC and KREC was performed by real-time polymerase chain reaction (RT-PCR) followed by analysis of melting curves in neonatal dry blood spots (DBS). The DBS samples were collected between May 2020 and January 2022. In total, 10,350 newborns were screened. Sixty-five blood DNA samples were used for control: 25 from patients with ataxia-telangiectasia, 37 -from patients with Nijmegen breakage syndrome, 1with X-linked agammaglobulinemia, 2with SCID (JAK3 deficiency and DCLRE1C deficiency). Retest from the first DBS was provided in 5.8% of patients. New sample test was needed in 73 (0.7%) of newborns. Referral to confirm or rule out the diagnosis was used in 3 cases, including one urgent abnormal value. CID (T low B+NK+) was confirmed in a patient with the urgent abnormal value. The results of a pilot study in Ukraine are compared to other studies (the referral rate 1: 3,450). Approbation of the Frontiers in Immunology frontiersin.org 01

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Ascaridiase hépato-biliaire compliquée d'ictère mécanique: cas clinique et mini-revue Introduction. Le développement d'une jaunisse obstructive causée par une ascaridiose hépatobiliaire est assez rare. Les principaux facteurs contribuant à la survenue d'une obstruction mécanique de la fuite de bile sont la mort d'helminthes dans la lumière du conduit, l'invasion massive des voies biliaires par les ascarides ou la papillite sténosée qui l'accompagne. Présentation du cas. Nous décrivons un cas de jaunisse obstructive chez une femme avec une ascaridiose massive des voies biliaires et une papillite sténosée. La stratégie de traitement consistait en une cholangiopancréatographie rétrograde endoscopique (CPRE) avec élimination mécanique des helminthes des voies biliaires, une papillosphinctérotomie, des médicaments antihelminthiques et un traitement symptomatique. Conclusions. L'ascaridiase biliaire doit entrer dans le diagnostic différentiel des pathologies des voies biliaires, notamment dans les régions endémiques pour