Humans ; Infant ; Job Syndrome ; diagnosis ; immunology ; therapy ; Male

A 13-year-old girl presented with multiple skin abscesses. She was diagnosed as having juvenile dermatomyositis (DM) at the age of 7 years. She had suffered from recurrent skin infections, atypical pruritic dermatitis and pneumonia since the age of 8 years. Bacteriologic and fungal cultures for skin abscesses and oral mucosa were positive S. aureus and C. albicans, respectively. Chemotactic defect in peripheral blood neutrophils was observed. The level of serum IgE was markedly elevated, and anti-S.aureus specific IgE was found. A diagnosis of hyperimmunoglobulin E-recurrent infection syndrome (HIE) was made and she was successfully treated with surgical drainage and antibiotics. To our knowledge, this is the first case report of HIE in a patient with juvenile dermatomyositis.
Adolescence ; Case Report ; Dermatomyositis/complications* ; Female ; Human ; IgE/blood ; Job's Syndrome/immunology ; Job's Syndrome/diagnosis ; Job's Syndrome/complications* ; Staphylococcal Infections/immunology ; Staphylococcal Infections/complications ; Staphylococcus aureus/immunology

Adult ; Humans ; Immunologic Deficiency Syndromes ; diagnosis ; immunology ; Job Syndrome ; diagnosis ; immunology ; Killer Cells, Natural ; pathology ; Male ; Young Adult

Arteriovenous Malformations ; diagnosis ; etiology ; genetics ; Child ; Humans ; Immunoglobulin E ; blood ; Job Syndrome ; complications ; diagnosis ; genetics ; Lung ; diagnostic imaging ; pathology ; Male ; Mutation ; Radiography ; STAT3 Transcription Factor ; genetics

Hyper-IgE syndrome is a rare congenital immune deficiency disease characterized by severe eczema, recurrent infection of the sinopulmonary tract, cold subcutaneous abscess and high serum IgE levels. It is an autosomal dominant disease with incomplete penetrance. We examined the case of a 12 month old infant with hyperIgE syndrome since neonate. The diagnosis of hyper IgE syndrome was made because he had eczema on the face and scalp, subcutaneous absecesses on both external ear canals and markedly elevated serum IgE level with a past history of frequent pulmonary disease. Topical steroid and systemic antibiotics had been unhelpful in treating the eczema and the pulmonary disease. The patient received IVIG for severe eczema and the pulmonary infection. The eczema and pulmonary infection were significantly improved and the patient was discharged after 35days of hospitalization. After 10 months of immunoglobulin therapy, symptoms and general appearance were markedly improved. IVIG can be considered as a choice in the treatment of hyper IgE syndrome.
Abscess ; Anti-Bacterial Agents ; Deficiency Diseases ; Diagnosis ; Ear Canal ; Eczema ; Hospitalization ; Humans ; Immunization, Passive ; Immunoglobulin E ; Immunoglobulins* ; Immunoglobulins, Intravenous ; Infant ; Infant, Newborn ; Job Syndrome ; Lung Diseases ; Penetrance ; Scalp

PURPOSE: Primary immunodeficiency diseases are rare, innate defects of the immune system. Prompt diagnosis can lead to life-saving treatment and improvement in quality of life. We described the clinical features of primary immunodeficiency diseases which had been diagnosed in our institution during for 18 years. METHODS: Twenty-five patients diagnosed with primary immunodeficiency diseases were analyes in terms of their ages at diagnosis, presenting characteristics, types of primary immunodeficiency diseases and clinical courses. We retrospectively reviewed their medical records between 1990 and 2007 in Busan National University, Busan, Korea. RESULTS: Twenty males and 5 females were studied. Ages at diagnosis were variable, but 15 patiens (60%) were ages <3 years. The most common symptom was chronic coughing, and 12 patients were initially diagnosed as having bronchitis or pneumonia. Most patients had a past history of recurrent bronchitis, pneumonia or upper respiratory infections. Selective IgA deficiency was found in 11 cases (44%), panhypogammaglobulinemia in 3 cases (12%) and common variable immunodeficiency diseases such as DiGeorge syndrome and chronic granulomatous disease in 2 cases (8%), respectively. IgG4 deficiency and hyper IgE syndrome were found in 1 case, respectively. All patients with panhypogammaglobulinemia were regularly treated with IVIG, 1 patient chronic granulomatous disease was regularly treated with IFN-gamma. In many cases, upper respiratory infections, bronchitis, pneumonia, acute gastroenteritis, urinary tract infection were recurrent. CONCLUSIONS: Primary immunodeficiency diseases should be considered in children with recurrent or severe infections, because early diagnosis and treatment can reduce mortality and morbidity.
Bronchitis ; Child ; Common Variable Immunodeficiency ; Cough ; DiGeorge Syndrome ; Early Diagnosis ; Female ; Gastroenteritis ; Granulomatous Disease, Chronic ; Humans ; IgA Deficiency ; Immune System ; Immunoglobulin G ; Immunoglobulins, Intravenous ; Job's Syndrome ; Male ; Medical Records ; Pneumonia ; Quality of Life ; Respiratory Tract Infections ; Retrospective Studies ; Urinary Tract Infections

PURPOSE:Primary immunodeficiency diseases are disorders in which part of the body's immune system is missing or does not function properly due to intrinsic defects in the immune system. These patients have an increased susceptibility to pulmonary complications as well as primary infections. This study was to investigate pulmonary complications in patients with primary immunodeficiency diseases and characterize their patterns according to specific immune defects. METHODS:We retrospectively reviewed the medical records of 37 different cases of primary immunodeficiency diseases that were admitted to Severance hospital in Seoul between 1990 and 2006. RESULTS:Many patients had a previous history of recurrent respiratory infections and some suffered from pulmonary complications. Eight patients with hypogammaglobulinemia showed peribronchial wall thickening or bronchiectasis, and pneumatoceles or emphysematous changes were characteristic complications in two patients with hyper IgE syndrome. On microbiological examination, various bacteria, including Staphylococcus aureus, Pseudomonas aeroginosa, Streptococcus pneumoniae, were isolated from the hypogammaglobulinemia patients' sputum or ear discharge. In some patients with cell-mediated immune defects, such as chronic granulomatous disease or severe combined immune deficiency, yeast and ameba were isolated from the sputum and bronchial washing fluid respectively. CONCLUSION:Infections account for most of these complications, but the host reaction to infection seems to cause characteristic findings that could be helpful for diagnosis. The physician should be alert for the early diagnosis of children with primary immunodeficiency in order to prevent pulmonary complications.
Agammaglobulinemia ; Amoeba ; Bacteria ; Bronchiectasis ; Child ; Diagnosis ; Ear ; Early Diagnosis ; Granulomatous Disease, Chronic ; Humans ; Immune System ; Immunologic Deficiency Syndromes ; Job Syndrome ; Lung Diseases ; Medical Records ; Pseudomonas ; Respiratory Tract Infections ; Retrospective Studies ; Seoul ; Sputum ; Staphylococcus aureus ; Streptococcus pneumoniae ; Yeasts

PURPOSE:Primary immunodeficiency diseases are disorders in which part of the body's immune system is missing or does not function properly due to intrinsic defects in the immune system. These patients have an increased susceptibility to pulmonary complications as well as primary infections. This study was to investigate pulmonary complications in patients with primary immunodeficiency diseases and characterize their patterns according to specific immune defects. METHODS:We retrospectively reviewed the medical records of 37 different cases of primary immunodeficiency diseases that were admitted to Severance hospital in Seoul between 1990 and 2006. RESULTS:Many patients had a previous history of recurrent respiratory infections and some suffered from pulmonary complications. Eight patients with hypogammaglobulinemia showed peribronchial wall thickening or bronchiectasis, and pneumatoceles or emphysematous changes were characteristic complications in two patients with hyper IgE syndrome. On microbiological examination, various bacteria, including Staphylococcus aureus, Pseudomonas aeroginosa, Streptococcus pneumoniae, were isolated from the hypogammaglobulinemia patients' sputum or ear discharge. In some patients with cell-mediated immune defects, such as chronic granulomatous disease or severe combined immune deficiency, yeast and ameba were isolated from the sputum and bronchial washing fluid respectively. CONCLUSION:Infections account for most of these complications, but the host reaction to infection seems to cause characteristic findings that could be helpful for diagnosis. The physician should be alert for the early diagnosis of children with primary immunodeficiency in order to prevent pulmonary complications.
Agammaglobulinemia ; Amoeba ; Bacteria ; Bronchiectasis ; Child ; Diagnosis ; Ear ; Early Diagnosis ; Granulomatous Disease, Chronic ; Humans ; Immune System ; Immunologic Deficiency Syndromes ; Job Syndrome ; Lung Diseases ; Medical Records ; Pseudomonas ; Respiratory Tract Infections ; Retrospective Studies ; Seoul ; Sputum ; Staphylococcus aureus ; Streptococcus pneumoniae ; Yeasts

A cross-sectional study was conducted to evaluate the relationship between sick building syndrome (SBS) and the factors affecting SBS among 90 office workers. The study consisted of 1) a review of previous environmental investigations, 2) measurements of COy temperature, and relative humidity (RH), 3) a questionnaire survey of symptom prevalence and perception of environmental conditions using the National Institute for Occupational Safety and Health Indoor Air Quality (NIOSH IAQ) questionnaire, and 4) confidential interview and a review of medical records of employees having respiratory symptoms. COy temperature, and RH measured on the day of questionnaire survey were within the recommended range by American Society of Heating, Refrigerating, and Air-Conditioning Engineers (ASHRAE). Sixty-six percent of respondents were women and 60% considered their job description either "managerial (28%) "or "professional (32%)". Respondents had worked in the building for an average of 5.8 years. Forty-four percent reported having SBS defined as "having one or more symptoms that had occurred at work one or more days a week and tended to get better when away from work". Sex(p=0.001), duration of computer use(p=0.02), use of laser printer (p=0.02), use of cleanser or other office chemicals (p=0.004), feeling too little air movement (p=0.001), feeling air too dry(p=0.001), and unsatisfied with the current job(p=0.02) were related to an increased prevalence of SBS. Use of cleanser or other office chemicals (pO. 01), feeling too little air movement (p=0.01), and feeling air too dry (p=0.02) remained significant predictors of SBS when adjusting other variables by logistic regression analysis. The results of medical record review revealed a discrepancy in the number of diagnosed asthma cases by personal physician and an independent physician. Although this study contains several .limitations (e. g., cross-sectional study, small numbers of study, subjects, etc.), these results indicated that SBS is related to personal, environmental, and psychosocial factors and the precision of diagnosis is critical when evaluating environment-relatedness during disease cluster investigation.
Air Movements ; Air Pollution, Indoor ; Asthma ; Cross-Sectional Studies ; Data Collection ; Diagnosis ; Female ; Heating ; Hot Temperature ; Humans ; Humidity ; Job Description ; Logistic Models ; Medical Records ; National Institute for Occupational Safety and Health (U.S.) ; Prevalence ; Psychology ; Questionnaires ; Sick Building Syndrome*