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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thymoma has been associated with both humoral immunodeficiency and cellular immunodeficiency, but the latter association has never been described in the pediatric age group. We report a 15-year-old female with thymoma, recalcitrant oropharyngeal candidiasis, recurrent generalized cutaneous herpes simplex virus type 2 infection, recurrent pneumonia and myasthenia gravis. Pathology of the thymic lesion showed a 10x5x6 cm extensively hyalinized mass with residual regions of spindle cell predominant and lymphocyte-rich thymoma. There was no evidence of humoral immunodeficiency but there was clinical and laboratory evidence of cellular immunodeficiency with cutaneous anergy and absence of T cell proliferation to Candida antigen. Six weeks after the thymoma was resected, she was no longer anergic and Candida proliferation was normal, although she continued to experience infections. This is the first reported pediatric patient with an association of cellular immunodeficiency with thymoma.
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PMID:Thymoma and cellular immune deficiency in an adolescent. 956 Aug 44

Common variable immunodeficiency is the most frequent of the primary hypogammaglobulinemias. It is manifested by a wide variety of clinical signs and symptoms. In this retrospective, nationwide survey data were collected on all patients with common variable immunodeficiency who were receiving immunoglobulin replacement therapy in Finland to study the prediagnostic clinical picture, diagnostic delay, and diagnostic findings. Ninety-five patients were identified. The median age of the patients was 33 years. Sixteen of the patients were children. Sinopulmonary infections were the most common prediagnostic signs and symptoms; 66% had suffered from recurrent pneumonia, 60% from recurrent maxillary sinusitis, and 45% from recurrent bronchitis. There was a considerable delay in diagnosis. The mean delay was 8 years. At the time of diagnosis chronic pulmonary complications had already developed in 17% of the patients. The diagnosis was based on low serum immunoglobulin concentrations. This study showed that the awareness of common variable immunodeficiency is low. To improve the recognition of hypogammaglobulinemia, it should be suspected in every patient with recurrent bacterial infections. In addition to a low serum IgG concentration, measurement of specific antibody production is recommended to establish the diagnosis before initiation of a life-long and costly replacement therapy.
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PMID:Diagnostic findings in 95 Finnish patients with common variable immunodeficiency. 1133 53

The diagnosis and management of chronic and recurrent pneumonia in children may present a significant challenge for the primary care physician. Successful management depends on a careful evaluation of each episode, with a complete review of all available chest radiographs. Timing, location, and prodromes to recurrence can all provide important clues to the etiology of infection. Infiltrates that recur in a single lobe or segment of the lung may be caused by local airway obstruction, or by anatomic abnormalities of the lung itself. Pneumonias that occur in varied locations, or affect more than one lobe, suggest the presence of a more generalized abnormality, such as swallow dysfunction or aspiration, immunodeficiency or asthma. The pattern, frequency of recurrence, and severity of the infections can guide the practitioner in choosing the diagnostic studies most likely to identify an underlying etiology for recurrent episodes of pneumonia. With diligence and patience, most children with recurrent lower respiratory disease can be treated effectively.
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PMID:Chronic and recurrent pneumonias in children. 1189 21

Two hundred and eight children with recurrent pneumonia were studied over a 5-year period. Among these patients we found 10 cases with primary immunodeficiency disease: 6 cases of IgA deficiency, 1 case of X-linked agammaglobulinemia, 1 case of common variable immunodeficiency, 1 case of hyper IgM syndrome, and 1 case of Wiskott-Aldrich syndrome. This study describes the clinical features of these cases and assesses the usefulness of our immunodeficiency screening protocol. In this group 6 were males; the mean age at first episode of pneumonia was 3 years (range 3 months to 18 years), and the age of diagnosis ranged between 10 months and 19 years. The average number of episodes of pneumonia in each patient was 5 (range 2 to 12), and the number of hospitalizations ranged up to 13. The etiologic agents isolated from this recurrent pneumonia were S. pneumoniae, Moraxella, adenovirus, respiratory syncytial virus, and influenza B virus. Intravenous immunoglobulin was used in four cases. Two patients had chronic pulmonary damage with bronchiectasis and interstitial pneumonia. Only one patient died (Wiskott-Aldrich syndrome) during the follow-up from an intracranial hemorrhage. We found that the screening protocol applied to patients with recurrent pneumonia is a useful tool for ruling out the primary immunodeficiency disorders.
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PMID:Recurrent pneumonia as warning manifestation for suspecting primary immunodeficiencies in children. 1190 19

The prevalence of bronchiectasis decreased due to the effective use of vaccines and advances of antibiotic therapy after 1970. However, it remains an important long-term morbidity of lower respiratory tract infection in developing country. To evaluate the clinical features of bronchiectasis in a tertiary hospital, we collected 21 patients with a diagnosis of bronchiectasis in Taipei Veterans General Hospital from May, 1984 to Dec, 2001 in pediatric outpatient with the admission of age below 18 years old. The diagnosis was based on the history of recurrent cough with fetid sputum, hemoptysis, or recurrent lobar pneumonia for months at least and radiological findings of lobar infiltration, tram-track like patterns, bronchiolar dilatation or honeycomb patterns. The diagnostic examinations included chest plain radiography, bronchography and chest computed tomography (CT) scans. Respiratory tract infections were the commonest cause predisposing to bronchiectasis in our study. Tuberculosis is not rare in this study. In recent years, immunodeficiency disorders have been recognized. Most patients suffered from recurrent cough and fetid sputum for years before diagnosis was established. Hemoptysis was the second common symptom in our study. The plain chest radiograph of bronchiectasis revealed dilatation of bronchial trees with honeycomb pattern or infiltration only. In recent years, chest CT became the most accurate and being noninvasive diagnostic tool. The initial treatment was primarily medical conservative therapy. Only five patients in our cases underwent pulmonary resection due to persistent hemoptysis, recurrent bacterial pneumonia or pulmonary parenchyma destruction. Most patients still suffered from recurrent pneumonia or occasional exacerbation in the long-term follow-up. In conclusion, bronchiectasis is not uncommon in pediatric population in northern Taiwan. The history of recurrent cough with fetid sputum, hemoptysis, or recurrent pneumonia were the most important clues to early diagnosis of this disease. Early diagnosis and appropriate treatment are effective in order to prevent lung abscess, empyema and pneumothorax, bronchopleural fistula, hemoptysis or cor pulmonale.
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PMID:Clinical spectrum of bronchiectasis in children. 1260 83

Primary immunodeficiency syndromes are rarely diagnosed among adults. Common variable immunodeficiency (CVID) is a congenital immunological disorder characterized by defective antibody production. In this report, we describe a 35-year-old male suffering from a common variable immunodeficiency, referred to us because of a lobar pneumonia. He had a history of recurrent pulmonary infections, which was present months before presentation, suggesting hypogammaglobulinemia. We found a severe hypogammaglobulinemia, which confirmed the diagnosis of CVID. His immunoglobulin profiles upon admission before infusion of immunoglobulin (normal ranges) were: IgG < 1.41 (8-17) g/l, IgA 0.25 (0.85-4.9) g/l, IgM 0.182 (0.5-3.7) g/l, and IgE < 2 (< 120) IU/ml. His HLA profiles were HLA A2 A26, B18 B38, Cw7, DR11 and DQ7 DQ9. He was treated with intravenous immunoglobulin. After this regimen, his IgG was maintained at > 6.0 g/L. On follow up, he has been free of opportunistic infections. In conclusion, CVID should be considered in the differential diagnosis of recurrent pneumonia in adults.
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PMID:Common variable immunodeficiency in an adult with recurrent pneumonia. 1453 87

We report the unusual involvement of altered PBP 2A in the development of beta-lactam resistance in Streptococcus pneumoniae. This was investigated amid three identical serotype 14 isolates (designated isolates 1, 2, and 3, respectively) of pneumococci cultured successfully from the blood of a human immunodeficiency virus-seropositive child with recurrent pneumonia. The passage of this strain through its human host induced several changes in the bacterium, which is typical of the adaptive and evolving nature of the pneumococcus. An efflux resistance mechanism, which conferred increased ciprofloxacin resistance, was induced in isolates 2 and 3. In addition, faster growth rates and larger capsules were also observed for these isolates, with respect to isolate 1. Notably, compared to isolates 1 and 2, isolate 3 showed a decrease in penicillin, cefotaxime, and ceftriaxone resistance. This change was associated with the replacement of an altered PBP 2A for an unaltered PBP 2A. In all likelihood, these events produced a strain which evolved into a fitter and more virulent type, isolate 3, that resulted in an aggravated pneumococcal infection and ultimately in the patient's death.
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PMID:Altered PBP 2A and its role in the development of penicillin, cefotaxime, and ceftriaxone resistance in a clinical isolate of Streptococcus pneumoniae. 1585 25

Common variable immunodeficiency is characterized with B-cell and T-cell dysfunction and hypogammaglobulinemia. Recurrent bacterial infections, such as otitis media, chronic sinusitis and recurrent pneumonia due to diminished immunoglobulin (Ig) levels and impaired antibody production are frequently observed in common variable immunodeficiency. Almost half of the patients with common variable immunodeficiency have problems related to the gastrointestinal system. A 39-year-old woman was referred to our department with the complaint of chronic diarrhea. She had experienced diarrhea without mucus or blood in the last year and had lost 30 kg. In her medical history, she had suffered from recurrent upper and lower respiratory infections like sinusitis, otitis media and pneumonia since childhood. Serum immunoglobulin levels were low. There were no parasites or ova in her stool examinations. Esophagogastroduodenoscopy detected widespread macroscopic nodular appearance on duodenum, and biopsies from the duodenum revealed giardiasis invading the tissue. She was diagnosed as common variable immunodeficiency. After metronidazole therapy and intravenous immunoglobulin infusion was started, her diarrhea attacks ceased and she regained her normal weight. Common gastrointestinal system problems in patients with common variable immunodeficiency are lactose intolerance, lymphoid hyperplasia/diffuse lymphoid infiltration, loss of villi and infection, especially with Giardia lamblia. Giardiasis may lead to severe mucosal flattening and sometimes to lymphoid hyperplasia at the lamina propria of the duodenum. Medical history should be evaluated carefully regarding recurrent respiratory infections. In such cases with chronic diarrhea, common variable immunodeficiency should be kept in mind as a possible cause.
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PMID:Common variable immunodeficiency (CVID) presenting with malabsorption due to giardiasis. 1625 5

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.
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PMID:Hyper-IgE syndrome and autoimmunity in Mexican children. 1679 2

In order to determine the clinical and laboratory findings of Iranian patients with presumed hyper-immunoglobulin E syndrome (HIES), the medical records of 22 patients from 21 unrelated families, who had been registered in the Iranian Primary Immunodeficiency Registry, were observed. The median age of patients at the time of first symptom and at the time of diagnosis was 1 month and 52.5 months, respectively, with a median diagnosis delay of 70 months. 13 families had consanguineous marriages. IgE level was higher than 2000 IU/ml in all patients, ranging from >2000 to 80,000 IU/ml. The most commonly occurring manifestations were: eczema and dermatitis, pneumonia, upper respiratory tract infections, cutaneous abscesses, diarrhoea, deep abscesses, and otitis media. Other less frequent manifestations were: mucocutaneous candidiasis, sinusitis, cutaneous ulcers, Molluscum contagiosum, herpetic keratitis, onychomycosis, conjunctivitis, septic arthritis, and meningitis. Five patients were complicated by bronchiectasis due to recurrent pneumonia and 5 patients died because of severe infections and malignancy. The HIES is a multisystem disorder that affects especially cutaneous, respiratory, skeletal and the immune system. Although HIES is a rare condition, the recurrent infections should always raise a suspicion, which deserves further evaluation for detecting the syndrome.
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PMID:The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome. 1700 35


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