Emel Babacan

Ocular granulocytic sarcoma (chloroma) with acute myelomonocytic leukemia in turkish children

In a series of 166 leukemic children from Turkey, 56 had acute myelomonocytic leukemia (AMML). Seventeen boys and 3 girls presented with chloroma‐like deposits (granulocytic or myeloid sarcomas) in the eye and orbit, all showing AMML on initial study of blood and marrow. The ocular lesions responded rapidly to antileukemic therapy. Laboratory studies of AMML cases revealed no cytogenetic or immune defects, and Epstein‐Barr virus titers were normal. A group‐specific (GS‐3) antigen (type‐C virus?) was identified in one patient by radioimmunoassay of orbital tumor extracts. It is not clear what factors contribute toward the myelomonocytic differentiation of leukemia and its localization in the eye and orbit, but opportunities for further study are enhanced by reports of a predisposition to ocular chloroma among leukemic children in Africa, Egypt, and Japan.

Decreased iron and zinc absorption in Turkish children with iron deficiency and geophagia.

Oral iron and zinc tolerance tests were performed in 12 patients between 8 and 21 years of age, with iron deficiency anemia and geophagia. Decreased iron and zinc absorption were detected respectively in patients against the elevated absorption curves in control subjects. Iron and zinc malabsorption may be an additional feature of the syndrome characterized by geophagia, iron deficiency anemia, hepatosplenomegaly, hypogonadism and dwarfism observed in Turkey and Iran.

Is immune system influenced by adenotonsillectomy in children

OBJECTIVE Tonsils and adenoids are lymphoid tissues that are located in the pharynx and play an important role against invading antigens of the upper respiratory tract. The present study analyses serum immunoglobulin levels and peripheral blood (PB) lymphocyte subsets in children, 24-48 h prior to and 4-6 weeks after adenotonsillectomy, in order to determine early effects of adenotonsillectomy on the immune system. METHODS The study population consists of 15 children (aged 4-10 years) who underwent adenotonsillectomy because of adenoidal hypertrophy and chronic tonsillitis and 15 age-matched healthy children without a history of adenotonsillectomy. Serum IgG, IgA and IgM levels were measured by nephelometry. PB lymphocyte subsets were analysed by using monoclonal antibodies and flow cytometry. RESULTS Children with chronic tonsillitis have increased levels of CD19+ B lymphocytes compared to healthy controls in the pre-operative period. The percentage of B lymphocytes bearing CD23 was found to be significantly higher in patients, most likely representing in vivo B lymphocyte activation due to chronic antigenic stimulation. After the adenotonsillectomy, despite ongoing B lymphocyte activation, CD8+ T lymphocyte levels increased and B cell levels returned to normal. A slight decrease in serum IgG, IgA and IgM levels was detected in the post-operative period compared to prior levels. CONCLUSION Adenotonsillectomy performed in children leads to alterations that may reflect a compensatory response of the developing immune system after the removal of the lymphoid tissue in the setting of chronic antigenic stimulation. However, these changes do not cause significant immune deficiency.

Granulocyte Transfusions in Children With Chronic Granulomatous Disease and Invasive Aspergillosis

Abstract:  The transfusion of granulocytes to restore host defenses in severely granulocytopenic patients or in patients with defective granulocyte functions has been studied for more than 60 years. However, inadequate dosage of cells and inconsistent efficacy has limited the usage of these transfusions. Recently, the use of mobilizing agents such as granulocyte colony stimulating factors and dexamethasone has renewed interest in these treatment modalities. The present study is conducted to determine an appropriate method of enriched granulocyte collection with Fresenius AS.TEC.204 cell separator (Fresenius, Bad Homburg, Germany) and to evaluate the preliminary clinical results of granulocyte transfusion therapy in patients with chronic granulomatous disease and invasive Aspergillosis in parallel with in vitro granulocyte function. Three patients who have been treated for chronic granulomatous disease and invasive Aspergillosis received a total of 20 granulocyte transfusions. To mobilize granulocytes, healthy donors were given 450 µg of granulocyte colony‐stimulating factor (G‐CSF) subcutaneously and 8 mg of dexamethasone orally approximately 12 h before collection. Five µg/kg/day of G‐CSF was also subcutaneously administered prior to granulocyte transfusions. The first patient received 4; the second, 14 and the third, 2 transfusions. The granulocyte count given to these patients ranged between 0.4 and 3.0 × 109/kg. Most transfusions were well tolerated. The nitroblue tetrazolium (NBT) tests that were done 16–24 h after the transfusion showed 14–46% dye reduction. Two of the three patients survived the infection. Granulocyte transfusions from G‐CSF and dexamethasone stimulated donors could be a choice of treatment in chronic granulomatous disease patients, especially with disseminated invasive Aspergillosis.

Fanconi’s Aplastic Anemia, Analysis of 18 Cases

A total of 18 patients within the age range of 5-13 years, 12 male and 6 female, are diagnosed as having Fanconis aplastic anemia on the basis of congenital abnormalities, pancytopenia, bone marrow hypoplasia, and chromosomal and hematologic analysis. The hereditary and familial basis of Fanconis aplastic anemia was apparent in this series. Common abnormalities were growth retardation, café au lait spots, hyperpigmentations, microcephaly, phalange deformities, mental retardation, and hypogenitalism; chromosome abnormalities were detected in the majority of our cases. Mast cells were observed in the bone marrow in most of the patients. 1 case developed acute myelomonocytic leukemia.

Complete deficiency of the IL-12 receptor β1 chain: three unrelated Turkish children with unusual clinical features

Complete interleukin-12 receptor β1 deficiency is the most frequent known genetic etiology of the syndrome of Mendelian susceptibility to mycobacterial diseases (MSMD, OMIM 209950). Eleven disorders caused by different types of mutations in five different gene defects related to the IL-12 and IL-23/interferon (IFN)-γ axis have been described to date [2]. Refer to Fig. 1 for the pathways of IL-12/IL-23-dependent interferon IFN-gamma immunity. Patients with MSMD are vulnerable to the BacillusCalmette-Guerin (BCG) vaccine species Mycobacterium bovis, environmental mycobacteria and M. tuberculosis. Infectious diseases other than those caused by Salmonella species, the latter of which infect almost one-half of all patients, are rare [1, 3, 6]. We report here various and unusual clinical manifestations of three unrelated patients with complete IL-12Rβ1 deficiency due to three different mutations in the IL-12RB1 gene, of which two are novel (711insC, 628–644dup). The first patient was an 1-year-old infant girl who had BCG lymphadenitis at 6 months of age and disseminated mycobacterial infection complicated with spontaneous pneumomediastinum and subcutaneous emphysema at 12 months of age. She was treated with isoniazide, rifampin, ethambutol, amikacin, clarithromycin and clofazimine. Pre-tracheal fasciotomy was undertaken for subcutaneous emphysema. A complete IL-12 receptor β1 deficiency associated with the 711insC mutation in IL-12RB1 was detected (Fig. 2). The patient is still in remission. The second patient was an 19-month-old infant boy who presented with five episodes of infections attributable to Salmonella and two episodes of Salmonella enteritidis meningitis. There was no mycobacterial disease, including no adverse reaction to BCG immunization that was practiced at the age of 2 months. He was treated with meropenem, rIFN-γ and external ventricular drainage and then ventriculo-peritoneal shunting for hydrocephalus. Immunologic and molecular genetic examinations revealed complete IL-12Rβ1 deficiency and a IL-12RB1 783+ 1G>A mutation (Fig. 2) [3]. The third patient, a 4.5-year-old boy, had fistulized BCG lymphadenitis in early childhood followed by disseminated mycobacterial infection and splenic abscess with Salmonella bacteremia at 44 months of age. He was treated with meropenem and with isoniazide, rifampin, ethambutol, clarithromycin and amikacin. The patient improved; however, he was lost to follow-up and has been reported to have died. DNA sequencing revealed a 628–644dup mutation in IL-12RB1 (Fig. 2). A complete IL-12 receptor β1 deficiency is suspected. All three patients had persistent oral moniliasis. Among a total of 56 cases of IL-12 receptor β1 deficiency reported in the literature, the rate of infection with BCG M. bovis is 73% (27/37), environmental mycobacteria 21% (22/56), non-typhoidal Salmonella species 46% (26/56) and tuberculosis 7% (4/56) [4–6]. Paracoccidioides brasiliensis-disseminated disease has also recently been reported in an IL-12Rβ1-deficient patient. None of the 37 patients with BCG disease subsequently G. Tanir (*) . N. Tuygun . C. Aydemir . E. C. Boduroglu Dr. Sami Ulus Children Health and Diseases Training and Research Center, Hosdere Caddesi 166/3, Yukari Ayranci, 06550 Ankara, Turkey e-mail: gonultanir58@yahoo.com Fax: +90-312-3170353

Serum levels and differential expression of CD44 in childhood leukemia and malignant lymphoma: Correlation with prognostic criteria and survival

Abstract Background : The CD44, a cell surface proteoglycan, participates in a variety of function including tumor dissemination and metastasis. However, there are no available data on the prognostic significance of CD44 expression of tumor tissue correlated with serum sCD44 level in childhood leukemias and lymphomas.

Zinc and anergy in pediatric Hodgkin's disease in Turkey

Blood (serum, erythrocytes) and hair zinc levels were determined in 60 biopsy‐proven pediatric Hodgkins disease cases at diagnosis. Cellular immunity also was assessed through total lymphocyte counts, Erosette formation, lymphoproliferative response (LP), and delayed cutaneous hypersensitivity tests to dinitrochlorobenzene, streptokinase‐streptodornase, purified protein derivative and phytohemagglutinin (PHA) in some of these patients. Interestingly, anergic patients unresponsive to four antigens showed significantly more depressed serum zinc levels as well as decreased lymphoproliferative response to mitogen (PHA). A positive correlation could be shown between serum zinc level, cutaneous anergy and LP. A possible contributing role of zinc deficiency in defective cell mediated immunity in Hodgkins disease was proposed, and administration of oral zinc, as a natural immunostimulant is considered in this lymphoma. Cancer 59:305–309, 1987.

An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication

Abstract:  Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early diagnosis and hematopoietic stem cell transplantation may reverse the dismal prognosis in PNP deficiency. This report presents a new PNP deficiency case successfully transplanted without a conditioning regimen from an HLA‐identical family donor, who developed a complication of disseminated BCG infection.

Zinc deficiency in Hodgkin's disease☆

Abstract Serum, plasma, RBC and hair zinc concentrations were measured in children with Hodgkins disease at diagnosis and during remission. Zinc values in all the measured compartments were found to be significantly low before treatment while serum, and plasma zinc levels returned to normal or above normal values during remission. Our results indicate that chronic zinc deficiency exists at diagnosis in Pediatric Hodgkins disease in Turkey. In view of the recent observations indicating a close relationship between thymus and zinc, following hypothesis was speculated; a preexisting nutritional zinc deficiency commonly found in Turkey may prepare a milieu favouring development of Hodgkins disease by causing the suppression of thymus dependant cellular immunity.