Bruton’s Disease

Bruton’s disease, in other terms X-linked agammaglobulinemia (XLA), is the first reported primary immunodeficiency in 1952, caused by a single genetic defect. The development of B cell is under control of signals transmitted by the B-cell antigen receptor (BCR) complex. Lyn, Syk, and Bruton’s tyrosine kinase (BTK) are cytoplasmic protein tyrosine kinases. XLA is caused by mutations in the Btk gene, and Btk mutations are responsible for 85% of all antibody deficiencies. Btk mutation interrupts the B-cell development at the pre-B-cell stage, resulting in the absence of B lymphocytes and plasma cells in peripheral blood and peripheral lymphoid tissues. Up till now, 380 unique mutations have been identified. Autosomal recessive forms of agammaglobulinemia also result in B-cell defects, but more severe bacterial infections are seen in XLA patients due to absolute block in early B-cell development. All serum immunoglobulin isotypes are decreased, and antibody production especially against vaccine antigens is impaired

Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

Ataxia-telangiectasia (A-T) is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for diagnosis. Vascular abnormalities in organs have been reported infrequently but bladder wall telangiectasias are extremely rare. We aimed to report recurrent hemorrhage from bladder wall telangiectasia in a 9-year-old boy with A-T who had received intravenous cyclophosphamide for non-Hodgkin’s lymphoma. Since A-T patients are known to be more susceptible to chemical agents, we suggested that possibly cyclophosphamide was the drug which induced bladder wall injury in this patient

Inappropriate antimicrobial use in Turkish pediatric hospitals: A multicenter point prevalence survey

Objectives: Although well-defined principles of rational antimicrobial use are available, inappropriate prescribing patterns are reported worldwide. Accurate information on the usage of antimicrobials, including factors associated with and influencing their use, is valuable for improving the quality of prescription practices. Methods: In this cross-sectional point prevalence survey, data on patients hospitalized in 12 different children's hospitals were collected on a single day. Appropriateness of prescription was compared between the types of antimicrobials prescribed, indications, wards, and presence of/consultation with an infectious disease physician (IDP). Results: A total 711 of 1302 (54.6%) patients evaluated were receiving one or more antimicrobial drugs. The antimicrobial prescription rate was highest in pediatric intensive care (75.7%) and lowest in the surgery wards (37.0%). Of the 711 patients receiving antimicrobials, 332 patients (46.7%) were found to be receiving at least one inappropriately prescribed drug. Inappropriate use was most frequent in surgery wards (80.2%), while it was less common in oncology wards (31.8%; p < 0.001). Respiratory tract infection was the most common indication for antimicrobial use (29.4%). Inappropriate use was more common in deep-seated infections (54.7%) and respiratory infections (56.5%). Fluoroquinolones were used inappropriately more than any other drugs (81.8%, p = 0.021). Consultation with an IDP appears to increase appropriate antimicrobial use (p = 0.008). Conclusions: Inappropriate antimicrobial use remains a common problem in Turkish pediatric hospitals. Consultation with an IDP and prescribing antimicrobial drugs according to microbiological test results could decrease the inappropriate use of antimicrobials

Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

Ataxia-telangiectasia (A-T) is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for diagnosis. Vascular abnormalities in organs have been reported infrequently but bladder wall telangiectasias are extremely rare. We aimed to report recurrent hemorrhage from bladder wall telangiectasia in a 9-year-old boy with A-T who had received intravenous cyclophosphamide for non-Hodgkin’s lymphoma. Since A-T patients are known to be more susceptible to chemical agents, we suggested that possibly cyclophosphamide was the drug which induced bladder wall injury in this patient

Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

Ataxia-telangiectasia (A-T) is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for diagnosis. Vascular abnormalities in organs have been reported infrequently but bladder wall telangiectasias are extremely rare. We aimed to report recurrent hemorrhage from bladder wall telangiectasia in a 9-year-old boy with A-T who had received intravenous cyclophosphamide for non-Hodgkin’s lymphoma. Since A-T patients are known to be more susceptible to chemical agents, we suggested that possibly cyclophosphamide was the drug which induced bladder wall injury in this patient

Profile of the patients who present to immunology outpatient clinics because of frequent infections

AIM: We aimed to determine the rate of primary immune deficiency (PID) among children presenting to our immunology outpatient clinic with a history of frequent infections and with warning signs of primary immune deficiency. MATERIAL AND METHODS: The files of 232 children aged between 1 and 18 years with warning signs of primary immune deficiency who were referred to our pediatric immunology outpatient clinic with a complaint of frequent infections were selected and evaluated retrospectively. RESULTS: Thirty-six percent of the subjects were female (n=84) and 64% were male (n=148). PID was found in 72.4% (n=164). The most common diagnosis was selective IgA deficiency (26.3%, n=61). The most common diseases other than primary immune deficiency included reactive airway disease and/or atopy (34.4%, n=22), adenoid vegetation (12.3%, n=8), chronic disease (6.3%, n=4) and periodic fever, aphtous stomatitis and adenopathy (4.6%, n=3). The majortiy of the subjects (90.5%, n=210) presented with a complaint of recurrent upper respiratory tract infection. PID was found in all subjects who had bronchiectasis. The rates of the diagnoses of variable immune deficiency and Bruton agammaglubulinemia (XLA) were found to be significantly higher in the subjects who had lower respiratory tract infection, who were hospitalized because of infection and who had a history of severe infection compared to the subjects who did not have these properties (p<0.05 and p<0.01, respectively). Growth and developmental failure was found with a significantly higher rate in the patients who had a diagnosis of severe combined immune deficiency or hyper IgM compared to the other subjects (p<0.01). No difference was found in the rates of PID between the age groups, but the diagnosis of XLA increased as the age of presentation increased and this was considered an indicator which showed that patients with XLA were being diagnosed in a late period. CONCLUSIONS: It was found that the rate of diagnosis was considerably high (72.4%), when the subjects who had frequent infections were selected by the warning signs of PID

Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections

Background: Primary immunodeficiency diseases (PID) usually presents itself with recurrent, severe, and unusual infections, along with autoimmunity and various other malignancies. But, the diversity of PID often makes the diagnosis of patients difficult for physicians other than clinical immunologists. This study aimed to describe the characteristics of patients diagnosed with PIDs during the inpatient treatment for infectious diseases, and to highlight the cases in which a PID diagnosis should be considered. Methods: The clinical, immunological, and molecular features of 81 pediatric patients treated for infectious diseases, who were diagnosed with a PID during hospitalization was retrospectively analyzed. The diagnosis was based on the PID criteria of the International Union of Immunological Societies. Results: The five main PID sub-types were identified. Predominantly, antibody deficiencies were the most common (61.7%) group. The average delay in diagnosis was 34.6 months, and the positive family history rate was 24.7%, while the consanguineous marriage rate was 45.7%. Around thirty-five (43%) patients were found to have mutated PID-related genes. While lower respiratory tract infections were the most common symptom, a fever of unknown origin was another remarkable diagnosis. Eight (9.9%) patients underwent allogeneic hematopoietic stem cell transplantation. Conclusions: Clinicians should consider a PID diagnosis, especially in the cases of recurrent, severe, or atypical infections. Increased knowledge of the alarm features of PID can promote early diagnosis