Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

The European Society for Immunodeficiencies patient registry (ESID-R), established in 1994, is one of the world’s largest databases on inborn errors of immunity (IEI). IEI are genetic disorders predisposing patients to infections, autoimmunity, inflammation, allergies, and malignancies. Treatments include antimicrobial therapy, immunoglobulin replacement, immune modulation, stem cell transplantation, and gene therapy. Data from 194 centers in 33 countries capture clinical manifestations and treatments from birth onward, with annually expected updates. This report reviews the ESID-R’s structure, data content, and impact. The registry includes 30,628 patient datasets (aged 0–97.9 years; median follow-up: 7.2 years; total 825,568.2 patient-years), with 13,550 cases in 15 sub-studies. It has produced 84 peer-reviewed publications (mean citation rate: 95). Findings include real-world observations of IEI diagnoses, genetic causes, clinical manifestations, treatments, and survival trends. The ESID-R fosters global collaboration, advancing IEI research and patient care. This report highlights the key role of the multinational ESID-R, led by an independent medical society, in evidence-based discovery

Overdiagnosis of pneumonia in children

The aim of this study was to reevaluate patients diagnosed as pneumonia in our outpatient clinic in an effort to determine whether these patients really had pneumonia and needed antibiotic therapy. Over a 14-month period, 119 children who were diagnosed as pneumonia were prospectively evaluated. In order to find a relationship, specificity and sensitivity were defined. The diagnosis of pneumonia was ruled out in 48 of the 119 (40%) patient included. An incorrect diagnosis of pneumonia was made in 40% of cases and antibiotics were prescribed unnecessarily in 85%. Tachypnea, which had a specificity of 99% and sensitivity of 61%, was the most important criteria in diagnosing pneumonia. We believe that children who present with cough only do not always need antibiotic treatment. Tachypnea and auscultation findings are important criteria for diagnosing and treating pneumonia

Allergic bronchopulmonary aspergillosis in two patients with cystic fibrosis

Allergic bronchopulmonary aspergillosis (ABPA) is hypersensitivity to Aspergillus fumigatus which manifests as episodic wheezing, usually refractory to bronchodilator therapy, with fixed and transient pulmonary infiltrates, central bronchiectasis, blood eosinophilia, elevated serum IgE level, immediate skin reactivity to an A. fumigatus antigen and precipitating antibodies to A. fumigatus. It is an unusual complication of asthma and cystic fibrosis (CF). We present two cystic fibrosis patients with ABPA treated successfully with prednisone and, in Case 1 also with itraconazole, The physician should be: alert to the possibility of ABPA whenever CF patients present with the new infiltrates, high serum total IgE and other positive parameters of A. fumigatus sensitization. Treatment with systemic steroids should be started in order to prevent irreversible lung damage

Allergic bronchopulmonary aspergillosis in two patients with cystic fibrosis

Allergic bronchopulmonary aspergillosis (ABPA) is hypersensitivity to Aspergillus fumigatus which manifests as episodic wheezing, usually refractory to bronchodilator therapy, with fixed and transient pulmonary infiltrates, central bronchiectasis, blood eosinophilia, elevated serum IgE level, immediate skin reactivity to an A. fumigatus antigen and precipitating antibodies to A. fumigatus. It is an unusual complication of asthma and cystic fibrosis (CF). We present two cystic fibrosis patients with ABPA treated successfully with prednisone and, in Case 1 also with itraconazole. The physician should be alert to the possibility of ABPA whenever CF patients present with the new infiltrates, high serum total IgE and other positive parameters of A. fumigatus sensitization. Treatment with systemic steroids should be started in order to prevent irreversible lung damage

Inhaled corticosteroids for maintenance treatment in childhood pulmonary sarcoidosis

We present our experience with sequential oral and inhaled corticosteroid therapy in childhood pulmonary sarcoidosis. Fifteen children were followed-up for a mean of 7 y. Treatment consisted of oral prednisolone 2 mg/kg/d on initial diagnosis. After remission was reached, alternate day therapy with I mg/kg was continued. The dose was tapered to a maintenance dose which controlled the activity of the disease. When patients were free of symptoms and had no clinical and laboratory findings, inhaled corticosteriod treatment was started. Relapse treatment consisted of cessation of inhaled corticosteroids and start of oral corticosteroids at a dosage of 2 mg/kg/d and then a tapered dose. Five patients were given oral corticosteroids only. Nine patients were given inhaled steroids after oral corticosteroid therapy had been discontinued. Clinical and radiological remissions were achieved in every patient

Fiberoptic flexible bronchoscopy via the laryngeal mask airway in children

The laryngeal mask airway (LMA) is a new device for controlling the airway during many procedures. Aside from its use in different kinds of surgical procedures, fiberoptic flexible bronchoscopy can also be performed easily with this mask in children under sedation. This procedure was performed via LMA in 36 children (aged 2-16 years) who suffered from different kinds of respiratory diseases and were seen at Hacettepe University Ihsan Doğramaci Children's Hospital, Pediatric Chest Disease Unit, during a seven-month period. The procedure was performed with success and no complications occurred. To the best of our knowledge, this is the first report from Turkey on flexible bronchoscopic evaluation via LMA in children with different kinds of respiratory diseases. We suggest that this technique can be used safely

Screening for tuberculosis in a primary school in Ankara

Tuberculosis is still an important health problem in developing countries. A screening program was conducted upon learning that one of the teachers of a primary school in Ankara was diagnosed to have active pulmonary tuberculosis. A total of 341 students in the same building with the index case were screened for tuberculosis. There were 109 students with positive tuberculin test reaction. A higher ratio of tuberculin test positivity among the students of the teacher with active tuberculosis versus students vaccinated with BCG one year previously according to the routine vaccination program was determined. Isoniazid prophylaxis was given to the students with positive tuberculin test. The study shows the importance of an urgent work-up of index cases and their environment to prevent the spread of tuberculosis

Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis.

SummarySevere type I plasminogen deficiency has been recently linked to ligneous conjunctivitis, a rare and uncommon form of chronic conjunctivitis. In this study, eight unrelated ligneous conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19 → Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134 → Lys) and a nonsense mutation (Cys133 → Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565ins-G). In two unrelated subjects with ligneous conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19 → Glu mutation is the most prevalent mutation in the plasminogen gene of patients with ligneous conjunctivitis.</jats:p

Heterogeneity in phenotypic features in patients with IL12Betal deficiency: Clinical and laboratory features and response to therapy in six patents

Severe disseminated BCG infection is rare and often associated with severe abnormalities in host responses, most notably severe combined immunodeficiency (SCID) or chronic granulomatous disease (CGD). However, many patients have no defined immunodeficiency and often normal resistance to other pathogens and were regarded as having 'idiopathic disseminated BCG infection. Children with idiopathic disseminated infection due to enviromental non-tuberculous mycobacteria have also been reported. It has been reported that in less than half of these patients have associated salmonella infection. IFN-gamma R1, IFN-gamma R2, IL-12R beta1 and IL-12p40 deficiencies have been shown in some of these patients