Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

Gastroesophageal reflux disease in children: How much we know?

WOS: 000420901600003Objective: Gastroesophageal reflux disease (GERD) can manifest with various clinical presentations and accompany to several diseases. This study aimed to assess presenting complaints, clinical characteristics and comorbid disorder in cases with GERD. Materials and Methods: We retrospectively reviewed age, gender, presenting complaints, findings of physical examination secondary causes of reflux, and comorbid disorders in 219 cases aged 1 month-15 years were diagnosed as GERD in Department of Pediatric Gastroenterology, between September, 2003 and December, 2005. Results: Of 291 cases, 114 (52.1%) were boys. Number of cases aged >= 1 years 168 (76.7%) was higher than those aged aged = 1 year. Recurrent vomiting, excessive crying, irritability, and feeding difficulty were more commonly observed among cases aged = 1 year. There was malnutrition in 15 cases (6.8%), short stature in 19 cases (8.6%) according to body weight and height Z scores assessed during physical examination. Growth retardation was more common among cases aged = 1 year, indicating significant difference (p= 1 year (41.3%). When comorbid diseases were considered, asthma was observed in 31 cases whereas Helicobacter pylori gastritis in 28 cases, indicating significant difference between cases aged = 1 year (p=0.009). Conclusion: Cases with suspected GERD should be investigated for extra-gastrointestinal findings. To improve quality of life in such patients, these problems, which tend to be chronic, should be recognized and treated early

AUTOIMMUNE DISEASES DETECTED IN CHILDREN WITH PRIMARY IMMUNODEFICIENCY DISEASES: RESULTS FROM A REFERENCE CENTRE AT MIDDLE ANATOLIA

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders that genetically affect distinct components of the immune system; thus, predispose individuals to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (ADs), which developed during the course of PID in children, were discussed.Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders that genetically affect distinct components of the immune system; thus, predispose individuals to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (ADs), which developed during the course of PID in children, were discussed.Twenty-five patients were included in this study. Symptoms related to ADs, such as autoimmune thyroiditis, type 1 diabetes mellitus, coeliac disease, juvenile idiopathic arthritis, dermatomyositis, autoimmune haemolytic anaemia, leukocytoclastic vasculitis, Henoch-Schonlein purpura, hypoparathyroidism, alopecia areata, Addison's disease, vitiligo and systemic lupus erythematosus were detected in these patients, who have been followed with diagnosis of PID including common variable immunodeficiency, selective and partial IgA deficiency, Wiskott-Aldrich syndrome, ataxia telangiectasia, hyperimmunoglobulin E syndrome, chronic mucocutaneous candidiasis, Griscelli syndrome, and partial C4 deficiency.Immunodeficiency and autoimmune phenomenon may concomitantly present in an individual, although they seem to be incompatible ends in the spectrum of the clinical immune response. Patients with primary immune deficiency should be closely monitored for development of autoimmune diseases.PMID:22982638[PubMed

Autoimmune diseases detected in children with primary immunodeficiency diseases: results from a reference centre at middle anatolia

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders that genetically affect distinct components of the immune system; thus, predispose individuals to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (ADs), which developed during the course of PID in children, were discussed.Twenty-five patients were included in this study. Symptoms related to ADs, such as autoimmune thyroiditis, type 1 diabetes mellitus, coeliac disease, juvenile idiopathic arthritis, dermatomyositis, autoimmune haemolytic anaemia, leukocytoclastic vasculitis, Henoch-Schonlein purpura, hypoparathyroidism, alopecia areata, Addison’s disease, vitiligo and systemic lupus erythematosus were detected in these patients, who have been followed with diagnosis of PID including common variable immunodeficiency, selective and partial IgA deficiency, Wiskott-Aldrich syndrome, ataxia telangiectasia, hyperimmunoglobulin E syndrome, chronic mucocutaneous candidiasis, Griscelli syndrome, and partial C4 deficiency.Immunodeficiency and autoimmune phenomenon may concomitantly present in an individual, although they seem to be incompatible ends in the spectrum of the clinical immune response. Patients with primary immune deficiency should be closely monitored for development of autoimmune diseases

Ataxia telangiectasia and secondary diseases

Aim: Ataxia telangiectasia is a rare autosomal recessive neurodegenerative disorder. In this retrospective study, it was aimed to evaluate immunological abnormalities and secondary diseases during the course of the patients with AT

Decreased Levels of Lipoxin A4 and Annexin A1 in Wheezy Infants

Objective: Wheezing is a common and challenging health issue in infancy and early childhood. Asthma diagnosis is frequent in patients with a history of recurrent wheezing. A relationship has been reported between asthma and anti-inflammatory mediators such as lipoxin A4 and annexin A1. However, this remains uncertain in wheezy infants. The aim of the present study was to determine lipoxin A4 and annexin A1 levels in wheezy infants. Materials and Methods: Eighty-seven patients aged 6-36 months were included in this study. Demographic characteristics, clinical features, laboratory data, clinical diagnoses, and treatments, if present, were recorded. Patients were divided into 2 groups: patients with wheezing (n = 59) and healthy controls (n = 28). Blood samples were taken and lipoxin A4 and annexin A1 levels were evaluated by ELISA. Results: Lipoxin A4 and annexin A1 levels were significantly lower in the wheezing group than in the control group (p 0.05). Conclusion: This is the first study to assess lipoxin A4 and annexin A1 levels in wheezy infants. The levels of lipoxin A4 and annexin A1 were found to be low in wheezy infants. We hope that these results will lead to novel therapeutic options for asthma in cases where an optimal treatment modality is lacking. (C) 20145. Karger AG, Base