Objective: This study aimed to gain a better understanding of the features of patients with primary immune deficiency diseases/inborn errors of immunity (PID/IEI) in our region. Materials and Methods: In this study, the medical records of 1163 patients with IEI who had been followed up for 5 years were retrospectively reviewed. Results: Of the patients, 714(61.3%) were boys and 449(38.6%) were girls. The mean age of diagnosis and diagnostic delay were found as 56.5 and 27.4 months, respectively. Immune deficiency linked to antibody deficiency comprised 90.2%(n= 1049)of all patients. The ratio and incidence of severe combined immunodeficiency(SCID) were 2.1% and approximately one in 10000 live-birth, respectively. The Complaints of respiratory tract infection and otitis media were significantly higher (p<0.05). The consanguinity percentage was 31.8%. First-degree cousin marriage was significantly higher in congenital defects of phagocyte, immune dysregulation, and combined immune deficiency than in other IEIs (p<0.05 ). The history of death of a previous sibling was 12.3%, IEI in the family was 10%, and growth and development retardation was 7.3% among our patients. While complete blood cell count(CBC) resulted in frequencies of anemia of 17.2%, neutropenia of 3.2%, lymphopenia of 5%, and thrombocytopenia of 1.9% in all patients, the lymphopenia ratio was 87% in those with SCID. Due to recurrent infections, 95.6% of patients were administered trimethoprim/sulfamethoxazole prophylaxis, and 5.8% received intravenous immunoglobulin replacement therapy. Forty-two percent of all patients were diagnosed with asthma during clinical follow-up, and chronic lung pathology was found in 7.8% of the patients. Conclusion: This study reveals that primary immune deficiency frequency was found higher in Konya city than the stated prevalence in literature and consanguinity among parents may be a remarkable factor and the presence of lymphopenia may be a remarkable feature for SCID.

Objectives Asthma and postinfectious bronchiolitis obliterans (PIBO) have similar clinical findings, and PIBO may be misdiagnosed with asthma. This study aimed to determine the clinical features of PIBO in children and the causes of delay in its diagnosis. Methods We retrospectively evaluated all patients diagnosed with PIBO in four pediatric pulmonology centers between 2007 and 2018. In total, 64 PIBO patients were retrospectively reviewed. We compared the clinical and laboratory differences between PIBO patients who had initially been misdiagnosed with asthma and correctly diagnosed with PIBO. Results Of the 64 patients, 22 (34.4%) had initially been misdiagnosed with asthma. Adenovirus was the most common infectious agent in children. The age upon diagnosis was older, and the symptom duration was significantly longer in patients misdiagnosed with asthma (P < .05). There were no statistical differences in terms of sex, history of prematurity, duration of hospitalization, treatment, history of oxygen or mechanical ventilation support, pulmonary function test (PFT) results and asthma-predisposing findings between the two groups (P > .05). Conclusions Patients with PIBO who had initially been misdiagnosed with asthma were correctly diagnosed at older ages and had longer symptom duration. Asthma may mask PIBO diagnosis by the similarity of symptoms and the clinical response to inhaled beta 2-agonist or steroid treatment. PFTs may not help clinicians because of the age of children. The delay in the diagnosis of PIBO is probably attributable to the fact that some clinicians fail to include PIBO in the differential diagnosis when there is no clinical response to asthma medication.

OBJECTIVES:The aims of this study was to demonstrate the viral pathogens, to evaluate the clinical prognosis, risk factors for recurrence, severity of acute viral bronchiolitis episodes among pediatric patients. MATERIALS AND METHODS:Our study included 101 children aged between 2 months and 2 years diagnosed with clinical bronchiolitis between September 2011 and April 2012.The demographics and clinical, laboratory, and radiological results of the patients were recorded.Nasopharyngeal swab samples were collected and analyzed through polymerase chain reaction (PCR) method.The patients were followed up for at least one year for new episodes, existence of wheezing, frequency of pulmonary infections, and progression of asthma. RESULTS:In half of the patients, determinants were indicated through the PCR method, with the most frequent being respiratory syncytial virus (44%).The frequency of bronchiolitis was higher in prematures (p<0.005).There was a relationship between crowded family structure and the existence of wheezing (p=0.003),increased recurrence (p=0.014), and need for inhaler treatment (p=0.014).The frequency was higher in patients living in urban cities (p<0.001), in houses with heating stoves (p=0.001), and in houses with smokers (p=0.001).Patients living in houses with heating stoves had more severe episodes (p=0.018).Recurrent wheezing and the need for regular inhaler usage were positively correlated with high API scores (p=0.008 and p=0.002, respectively).CONCLUSION: Prematurity, exposure to smoking, living in a crowded house with heating stoves, and an urban life are the risk factors for frequent bronchiolitis.The API can be used to predict the recurrence of bronchiolitis.

Objective: Post infectious bronchiolitis obliterans (PIBO) is a chronic lung disease which is caused by lower respiratory tract infections (LRTI) especially in children who are under 3 years of age. Adenovirus is the major pathogen in the etiology. There are no clinical controlled trials for treatment. Long term follow up varies. We aimed to investigate long term follow-up results of PIBO patients. Material and methods: We analyzed the long term follow up results of PIBO patients in three pediatric pulmonology centers. Demographic fetaures, clinical, laboratory findings, treatments, treatment results were evaluated. Results: In ten-year period 70 patients were followed with diagnosis of PIBO in three pediatric pulmonology centers. Mean age of patients was 9.24 ± 5.76 years and51 (72%) of them were male. Mean age of patients at the diagnosis was 3.96 ± 3.85 years and 23 (32%) of them had family consangunity. Pathogen was detected in 19 patients and adenovirus was the major pathogen which was detected in 9 patients. Oxygen supplementation was present in 26 patients at the time of LTRI. Pulse steroid was given only in 5 patients, oral prednisolone in 30 patients, azithromycin in 10 patients, inhaled steroid in 36 patients and IVIG in 8 patients who had accompanying immunodeficiency. Mean FEV1 was 56.99 ± 21.73 before treatment and 69.26 ± 21.45 after treatment. Mean FVC was 61.60 ± 21.47 before treatment and 71.61 ± 20.40 was after treatment. Mean MEF25-75 was 46.39 ± 24.47 and 59.11 ± 23.92 after treatment. There were statistically significant differences in FEV1, FVC, MEF25-75 between before and after treatments (p<0.05). Mean body mass index (BMI) was 16.67 ± 3.55 before treatment and 16.87 ±3.44 after treatment and there was no statistically significant difference (p>0.05). FEV1, FVC, MEF25-75 and BMI had statistically significant differences before and after treatments in patients who was given oral and/or inhaled steroid treatments (p<0.05). Conclusion: Although there is no definitive treatment recommendations for PIBO, steroid seems to be useful in children. Clinical controlled trials are needed for definitive treatment recommendations.

Objective Our aim was to present a child with visual hallucinations possibly associated with oral clarithromycin administration. Case report A 4-year-old child was admitted to our hospital with an onset of visual hallucinations after taking the second dose of clarithromycin by mouth. The symptoms gradually disappeared in a week once the clarithromycin therapy had been discontinued. She was observed for a month without any symptoms or further treatment. She was suspected of having Hoigne syndrome (also called as antibiomania) induced by clarithromycin syndrome. Conclusion This report highlights neuropsychological adverse effects due to therapeutic doses of clarithromycin therapy as a possible adverse effect in children.

Aim: Asthma and Post infectious bronchiolitis obliterans (PIBO) have similar clinical findings and PIBO patients may have misdiagnosed as asthma previously. In this study we investigated the clinical features of PIBO patients and the causes in the delay of the correct diagnosis. Method: Sixty four patients diagnosed with PIBO followed up between years 2007 and 2018 in four pediatric centers. Twenty two of 64 patients were misdiagnosed as asthma previously. Patients’ age, symptom duration, asthma predisposing factors, clinical and spirometric findings between PIBO patients misdiagnosed as asthma and non-asthma diagnosed PIBO patients were compared. Results: Adenovirus was the most common infectious agent in the children with PIBO. During 32.6±4.6 months of follow up 22 (34.4%) patients were misdiagnosed with asthma. Not only the age of diagnosis of patients with asthma misdiagnosis was found significantly longer than non-asthma diagnosed patients (p<0.05) but also symptom duration was significantly longer in misdiagnosed with asthma patients (p<0.05). There were no statistical differences in gender, history of prematurity, smoking exposure, hospitalization duration, treatment duration, history of oxygen support and mechanical ventilation duration, asthma predisposing findings between two groups. Conclusion: PIBO patients misdiagnosed as asthma, diagnosed later than expected and had longer symptom duration. The similarity of symptoms and clinical response to inhaled beta 2 agonists and steroid treatment in asthma and PIBO could be the reason for misdiagnosis. Because of the resemblance between the two diseases, PIBO patients may misdiagnosed as asthma previously.

The Nijmegen Breakage Syndrome (NBS) is a rare chromosomal instability disorder clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a significant predisposition to lymphoid malignancy. The gene mutated in NBS, NBS1, has been mapped to the 8q21 chromosome. The product of this gene is a protein with a molecular weight of 95 kDa named nibrin. One of the common features of NBS is dysregulation of both cellular and humoral arms of the immune system, resulting in recurrent bacterial and viral infections, mainly of the respiratory tract. NBS is a rare syndrome. It should be considered that NBS may be associated with immunodeficiency

Nijmegen Breakage Sendromu (NBS), mikrosefali, tipik yüz görünümü, büyüme geriliği, mental gerilik, immün yetmezlik ve lenfoid malignitelere yüksek yatkınlıkla karakterize nadir görülen bir kromozomal instabilite hastalığıdır. NBS, 8 nolu kromozomda bulunan (8q21) NBS1 geninde mutasyon sonucu ortaya çıkar. Bu gen moleküler ağırlığı 95 kDa olan nibrin proteinini kodlar. NBS’lu olgularda bildirilen immünolojik anormallikler hem hücresel hem de hümoral immün sistem ile ilgili olmakta, hastalarda daha çok tekrarlayan bakteriyal ve viral sinopulmoner enfeksiyonlar görülmektedir. NBS nadir görülen bir sendromdur. Bu sendroma immün yetmezlik tablosunun eşlik edebileceği akılda tutulmalıdır. ABSTRACT

Objective: To evaluate the role of the oxidant and antioxidant balance in the pathogenesis and prognosis of non-cystic fibrosis bronchiectasis (non-CF BE) in children. Materials and Methods: Twenty-nine children with non-CF BE were enrolled between June 2009 and October 2010. Thirty healthy children were enrolled as controls. Paraoxonase 1 (PON1), total oxidant status (TOS), and total antioxidant status (TAS) serum levels were measured in controls and in patients when stable and at acute exacerbation. Results: PON1 and TAS levels were lower in patients at acute exacerbation than in controls (P= 0.05 and P= 0.01, respectively). TOS levels indicative of oxidative stress were higher, and TAS/ TOS levels were lower, in immune-deficient patients than control group (P= 0.008 and P= 0.01, respectively). TAS levels and PON1/ TOS ratio were significantly lower in patients with moderate–severe bronchiectasis than in patients with mild bronchiectasis (P= 0.043 and P= 0.03, respectively). Conclusion: Oxidative stress was increased and antioxidant capacity decreased in patients with non-CF BE during the exacerbation period. Antioxidant treatment in patients with non-CF BE, especially in patients with immunodeficiency and/or with moderate–severe bronchiectasis, could be helpful to reduce the frequency and severity of the attacks by reducing oxidative stress-induced damage, ultimately contributing to a better prognosis.

How to cite this article: Pekcan S, Gökturk B, Reisli I. Successful Therapy with intravenous gamma globulin in two children with postinfectious bronchiolitis obliterans. J Pulmonol Respir Res. 2017; 1: 009-012. https://doi.org/10.29328/journal.jprr.1001003 Bronchiolitis obliterans (BO) is an infrequent clinical syndrome characterized by the chronic obstruction of small airways due to ibrosis [1]. Intravenous immunoglobulin (IVIG) could be used for treatment while underlying immune mechanisms in the pathogenesis of BO exist [2]. Here, we present two children with BO due to adenovirus infection whose complaints resolved after IVIG replacement.

22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent (autosomal dominant mutation). Genotype-phenotype correlation is weak in this patient group. We aimed to present three members in the same family due to an autosomal dominant inheritance with 22q11.2 deletion and different clinical findings.

PURPOSETo identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities.METHODSSixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing.RESULTSAll patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus.CONCLUSIONSThe chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222].

Introduction: Bronchiolitis obliterans (BO) is a rare, chronic lung disease, which results in fibrosis and irreversible obstruction of small airway. The most common cause is severe lower respiratory tract infection in children, named as post infectious bronchiolitis obliterans (PIBO). However, BO is often undiagnosed or misdiagnosed as other wheezing syndromes. Asthma and BO both have similar auscultation and spirometric findings and PIBO patients may be misdiagnosed as asthma. In this study we aimed to reveal the frequency of PIBO patients who were previously misdiagnosed as asthma and the delay of PIBO diagnosis in these patients. Methods: Between 2007-2015, 39 PIBO patients were reviewed. Patients9 ages, age of infection, symptoms, symptom duration, clinical and radiological findings, pulmonary function tests and asthma prediposing factors were compared between PIBO patients who were previously diagnosed as patients not previously diagnosed with asthma. Results: The mean age of diagnose was 4.64±0.68 year and 18 (46%) of them were previously misdiagnosed as asthma. The mean age of diagnose, the mean symptom duration and oxygen need during the infection differed significantly between the 2 groups of patients (P < 0.05). Gender, hospitalization and mechanical ventilation duration, pulmonary function tests and asthma predisposing factors did not differ between the 2 groups. Conclusion: PIBO is an uncommon chronic lung disease and the diagnosis requires strong doubt. Asthma is known as the most common chronic airway disease in children and may mask and delay the BO diagnosis in patients with chronic respiratory symptoms. To authors best knowledge, there is no other study that shows asthma misdiagnosis delay the PIBO diagnosis.

Hepatitis B virus (HBV) infection is a heterogeneous disease with distinct phases determined mainly by the interaction between virus replication and host immune response. HBV reactivation can occur spontaneously, developing resistance to antiviral treatment while the patient is undergoing treatment, after cessation of antiviral drugs, or be triggered by immunosuppressive drugs and chemotherapy. HBV reactivation can be severe and sometimes fatal because of liver failure. Here we report a patient with resolved HBV infection who presented with reactivation before being diagnosed with a relapse of non-Hodgkin lymphoma.

Clinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-γ and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12Rβ1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12Rβ1 deficiency caused by a novel bi-allelic mutation with recurrent salmonellosis, mycobacterial, fungal infections and remained asymptomatic during 13 months of follow-up after hIFN-γ treatment. In addition she had hemolytic anemia and midline defects like cleft lip and palate which have not been reported in a patient with MSMD in the literature prior to this case report. In conclusion, diagnosis of MSMD should be kept in mind in patients with recurrent salmonellosis, mycobacterial and fungal infections especially in countries with a high consanguinity rate.

Objective: The aim was to review the radiological findings and to find new prognostic factors that determine the need for pediatric intensive care unit (PICU) in children with swine-origin influenza (H1N1) virus infection.Methods: Chest X-ray (CXR) and computed tomography (CT) findings of 18 children with laboratory-confirmed H1N1 infection (9 boys, 9 girls) with a median age of 34 (1-216) months were retrospectively evaluated.Results: CXRs were performed in 15 (83.3%) and thorax CT in 7 (38.8%) children. Abnormal findings were detected in 60% of the patients who underwent CXR and 85.7% of the patients who underwent thorax CT. Radiological findings were mostly diffuse, bilateral, and asymmetric. Ground-glass opacity (GGO) (66.6%) was the leading abnormality and was followed by reticulation (38.8%), nodules (27.7%), consolidation only (16.6%), tree-in-bud pattern (11.1%), consolidation with GGO (5.5%), and septal lines (5.5%). Lymphadenopathy (22.2%), air trapping (5.5%), and parenchymal band (5.5%) were other recorded findings. CXR was found to be insufficient to detect subpleural nodules, lymphadenopathies, and sometimes GGO. Only existence of nodules (p=0.04) affected the need for PICU admission.Conclusion: The most common radiological findings in children with H1N1 infection were bilateral, asymmetric GGO with or without associated multifocal areas of consolidation. CXR was insufficient to detect subpleural nodules, lymphadenopathies, and sometimes GGO. The existence of nodules is a bad prognostic factor in determining the need for PICU admission.