Bahar Göktürk

Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: ‘Similarities and differences’

Keles S, Artac H, Kara R, Gokturk B, Ozen A, Reisli I. Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: ‘Similarities and differences’.
Pediatr Allergy Immunol 2010: 21: 843–851.
© 2010 John Wiley & Sons A/S

Late-onset adenosine deaminase deficiency presenting with Heck’s disease

Focal epithelial hyperplasia, also known as Heck’s disease, is a rare but distinctive entity of viral etiology with characteristic clinical and histopathological features. It is a benign, asymptomatic disease of the oral mucosa caused by human papilloma viruses (HPV). Previous studies postulated an association between these lesions and immunodeficiency. Genetic deficiency of adenosine deaminase (ADA) results in varying degrees of immunodeficiency, including neonatal onset severe combined immunodeficiency (ADA-SCID), and milder, later onset immunodeficiency. We report a 12-year-old girl with the late onset-ADA deficiency presenting with Heck’s disease. Our case report should draw attention to the possibility of immunodeficiency in patients with HPV-induced focal epithelial hyperplasia.

CD3G Gene Defects in Familial Autoimmune Thyroiditis

The patients with CD3γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma‐deficient siblings from a consanguineous family with a combined T−B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80‐1G>C). We also re‐evaluate a previously reported non‐consanguineous family with two CD3gamma‐deficient siblings with the same mutation. The median age at diagnosis was 11 years (14 months–20 years). We found all five patients to display autoimmunity: autoimmune thyroiditis (n = 5), autoimmune haemolytic anaemia (n = 2), immune thrombocytopenia (n = 1), autoimmune hepatitis (n = 1), minimal change nephrotic syndrome (n = 1), vitiligo (n = 1) and positive antinuclear antibodies (n = 3) as well as high IgE (n = 2) and atopic eczema (n = 2). While CD3+TCRαβ+T cell percentages were low in all patients, only one had lymphopenia and 3 had CD3+T cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families (n = 6; in 67%), and frequent autoimmunity in family members not available for testing (n = 5, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations.

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in il12rb1 gene

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.

Spontaneous pneumomediastinum as a complication in human bocavirus infection

The most common causes of spontaneous pneumomediastinum (SPM) in children are asthma attack and respiratory tract infection. Here, we describe a case of SPM in a human bocavirus‐infected 2‐year‐old boy with bronchiolitis.

Efficacy of intravenous immunoglobulin treatment in immunocompromised children with H1N1 influenza: a clinical observation

The appropriate treatment of pandemic H1N1 influenza which was first identified in April 2009 in Mexico is insufficient especially for immunocompromised patients. We aimed to evaluate the features and prognostic factors of the children with H1N1, especially immunocompromised ones, and whether intravenous immunoglobulin G (IVIG) replacement could aid for a better outcome.

Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?

BACKGROUND The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). OBJECTIVES We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. METHODS Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. RESULTS Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx105 ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx105 was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. CONCLUSIONS High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV≥8.6fl, MPV/PLTx105 ratio≥3.3 and PLT count ≤265,500/mm3, the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.

Successful Therapy with intravenous gamma globulin in two children with postinfectious bronchiolitis obliterans

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.

Ocular Findings in Children With 22q11.2 Deletion Syndrome

PURPOSE To 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. METHODS Sixteen 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. RESULTS All 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. CONCLUSIONS The 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].

Chest Imaging Findings in Hospitalized Children with H1N1 Influenza

INTRODUCTION Novel swine-origin influenza A (2009 H1N1) was first reported in Mexico in April 2009 (1). Since then, it has rapidly spread to many countries around the world. The first laboratory-confirmed case in Turkey was seen on June 27, 2009, and the pandemic 2009 H1N1 influenza A virus arrived at Konya in September 2009 (2). The symptoms of H1N1 infection may be similar to seasonal influenza, and hospitalization is not usually required. The virus can infect the lower respiratory tract and cause rapidly progressive pneumonia, especially in children and younger adults. The abnormal thoracic computed tomography (CT) scan findings vary widely among the studies of 2009 H1N1 influenza. Descriptions of the chest imaging manifestations of H1N1 virus infection in children are limited (3-7).