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Toprak-Kanık E, Yılmaz Ö, Yangın-Ergon E, Türkeli A, Yüksel H. Safety of subcutaneous allergen immunotherapy in children: A retrospective review and bird eye to literature. Turk J Pediatr 2018; 60: 684-690. Subcutaneous allergen immunotherapy (SCIT) has been shown to improve clinical course in children with asthma and allergic rhinitis (AR). Systemic and local side-effects may be seen during its administration. The purpose of this study was to evaluate risk factors associated with systemic and local side-effects in children receiving SCIT. We performed a retrospective chart review in the children who received allergen subcutaneous immunotherapy for asthma and/or allergen rhinitis. Demographic data, diagnosis, skin prick test results, presence of additional allergic diseases, the seasonal variation of adverse events in the first and third years of SCIT were recorded. A total of 508 eligible patients were included in the study. Mean age of the children was 10.9±3.2 years, and 65.4% were male. Asthma was present in 21.9% of the children, AR in 44.7%, 33.5% of them had both asthma and AR. According to the skin prick test results, sensitivity to more than one allergen was present in 45.1%, while the most common single-allergen sensitivities were to grass pollen and dermatophagoids (32.5% and 14.4%, respectively). Ratio of systemic and local side-effects was 4.7% and 9.3%, respectively. Local side-effects were more common than systemic reaction. SCIT is a safe treatment modality while using the appropriate dose and with the administration of dose-escalation protocol.

In this study, we aimed to determine the frequency of red cell allo- and autoimmunization and analyze the factors responsible for the development of antibodies in patients with transfusion-dependent thalassemia. This crosssectional study was conducted on 139 patients with thalassemia major and intermedia who received leukodepleted RBC transfusions on a regular basis. Patients with a positive antibody screen were further tested for antibody identification by a gel method. Red cell alloantibodies were found in 9 (6.4%) patients, and autoantibodies were found in 17 (12.2%) patients. The most common alloantibodies detected were those against Rh and Kell antigen systems. The alloantibody development rate was higher in thalassemia intermedia patients, in Rh(-) patients, in patients with an initial transfusion age2 years and in patients with a transfusion interval3 weeks (p0.05). The autoantibody development rate was found to be higher in adult and splenectomized patients (p0.05). Data from this study demonstrate that the RBC antibody development rate is high in our region. RBC antigen phenotyping and crossmatching with Kell and Rh subgroups may reduce alloimmunization in chronically transfused beta-thalassemia patients.

Tularemia caused by Francisella tularensis occurs worldwide in the northern hemisphere, with great variation in geographic and temporal occurrence. It generally presents as an acute febrile disease with the major clinical presentations including the six classic forms of tularemia: ulceroglandular, glandular, oculoglandular, oropharyngeal, typhoidal, and pneumonic. In contrast to European countries, where the ulceroglandular form is more prominent, the oropharyngeal form is the most common presentation in Turkey. We present rare cases of oropharyngeal tularemia in a 16-year-old boy and nine-year-old girl. To the best of our knowledge, these are the firstly described abdominal lymphadenopathy cases from Turkey. The second case was admitted with erythema nodosum, and abdominal lymphadenopathy was detected during the investigation. Excisional lymph node biopsy revealed abdominal tularemia. It is necessary to consider tularemia in the differential diagnosis of abdominal lymphadenopathy in tularemia regions. We also conclude that oropharyngeal tularemia can cause lymphadenopathy in any part of the gastrointestinal tract.

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues, leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exquisite photosensitivity, and mutilating skin lesions. We discuss a female infantile case who was admitted for jaundice; bullous lesions appeared on her trunk during phototherapy in the neonatal period. The skin biopsy findings were consistent with epidermolysis bullosa. Due to persistent hepatosplenomegaly and cholestasis, metabolic tests and liver biopsy were performed. During the follow-up, hemolytic anemia and red urine were detected. The levels of porphyrin metabolites were determined at high concentrations in plasma, stool and urine analysis, which were suggestive of congenital erythropoietic porphyria.

Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for Lowe syndrome and encodes an inositol polyphosphate-5-phosphatase. We present an 11-year-old boy with Lowe syndrome, who had a de novo frameshift mutation in exon 22 that resulted in amino acid substitution and premature codon termination at position 788. This is a new mutation involving the OCRL1 gene in a patient with Lowe syndrome of Turkish origin and expands the mutation spectrum in this disorder.