Successful management of delayed-onset adenosine deaminase deficiency with novel mutation.

A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel ADA gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation.

The importance of skin prick test in differentiating cat sensitivities and allergies in children.

BACKGROUND: The incidence of cat allergies in children has increased over the years. Children with cat allergies have mostly reported respiratory symptoms. The skin prick test (SPT) is the most preferred method to demonstrate sensitization to allergens. However, not all children who develop cat sensitization due to environmental exposure become allergic to cats. In our study, we aimed to determine the frequency of sensitization to cat and cat allergy, cat-related symptoms, and the cut-off value for the SPT that may indicate cat allergy. METHODS: Patients aged 2-18 years, who applied to the Health Sciences University Izmir Dr Behçet Uz Pediatrics and Surgery Training and Research Hospital and Balikesir University Application and Research Hospital Pediatric Allergy outpatient clinics between January 01, 2019 and December 31, 2020, were included in the study. Patients who underwent SPT and found to be sensitized to cat allergen, were evaluated retrospectively. Clinical and laboratory findings of the patients were recorded. Receiver operating characteristics (ROC) analysis was performed to determine the cut-off value for the SPT. RESULTS: Sensitization to cat was detected in 140 (4%) out of 3499 patients who underwent SPT. The median age of the patients was 12 years (min-max: 5-18) and 67.1% were male. Eighty-eight (62.9%) patients were symptomatic upon contact with cats, predominantly with nasal symptoms. These patients had significantly larger cat SPT wheal size than asymptomatic patients. The cut-off value was determined as 5.5 mm with a sensitivity of 72.7% and a specificity of 61.5% (95% CI, 60.5%-78.4%). Symptoms resolved in about half of our patients by reducing contact with cats. DISCUSSION: The present study is the first to report the frequency and clinical findings of cat sensitizations and allergies in Turkish children. For effective treatment, cat allergy must be diagnosed. In this regard, the use of a practical, readily accessible 5.5 mm cut-off point on the SPT may be helpful.

Prevalence of Viruses in Acute Asthma Exacerbations in Childhood in a Hospital in West Part of Turkey.

Acute asthma exacerbations (AAE) are episodes characterized by potentially life-threatening and rapidly deteriorating asthma symptoms. Viral respiratory infections are one of the major triggers in the pathophysiology of childhood asthma exacerbations. In this study, we aimed to determine the distribution of viral agents among pediatric AAE patients. One hundred and three AAE patients, aged 5 or older, hospitalized between from February 2017 through February 2020 at Pediatric Immunology and Allergic Diseases Unit were included in this study. Fifty patients (48.5%) were female, and the mean age of the patients was 108.2 months. Viruses were detected in 58 (%56.3) of the patients, in 5 of whom more than one virus type was detected. The most commonly detected virus was human rhinovirus (n=43, 67.1%). Other types included respiratory syncytial virus (n=8; 12.5%), influenza (n=6; 9.3%), human metapneumovirus (n=4; 6.2%), adenovirus (n=1; 1.5%), enterovirus (n=1; 1.5%), and parainfluenza (n=1; 1.5%). Viral agents were detected in 29 out of the 47 patients with allergic asthma, with human rhinoviruses comprising the majority (18 patients). The mean length of hospital stay was 7.89 days. Human rhinovirus is the most common virus that triggers AAE, with similar distributions in allergic and non-allergic asthma. We found no correlation between virus type and the length of hospital stay.

22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management.

INTRODUCTION AND OBJECTIVES: The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease. MATERIAL AND METHODS: Thirty-three pediatric patients with 22q11.2 deletion syndrome diagnosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children's Education and Research Hospital were evaluated. RESULTS: This study includes the largest case series reported from Turkey. Congenital cardiac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syndrome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogammaglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up. CONCLUSIONS: Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any difference in terms of numbers and severity of infections and autoimmunity.