11/167. Juvenile idiopathic polyarticular arthritis and iga deficiency in the 22q11 deletion syndrome.Five patients with the 22q11 deletion syndrome (velocardiofacial syndrome) developed chronic inflammatory polyarticular arthritis. These new cases add to 8 previously reported and confirm the association. The arthritis in all cases was moderate to severe, but at least partially responsive to methotrexate and/or corticosteroids, and was clinically indistinguishable from juvenile idiopathic arthritis (JIA). Analysis of the total 13 patients indicates that 2 are rheumatoid factor positive, 6 are antinuclear antibody positive, 5 have subtle T cell deficiencies, and 6 have hypergammaglobulinemia. Of particular interest is the occurrence of iga deficiency in 4 patients, including 2 from our own series. Although iga deficiency is seen in both JIA (2-4%) and 22q11 deletion syndrome (2-4%), the prevalence of low IgA in this series (31%) is much greater than expected. This phenomenon and the true association of inflammatory arthritis and a chromosome deletion disorder provides further evidence of important genetic factors in the pathogenesis of JIA.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
12/167. Sonographic detection of multiple brain abscesses in a newborn with iga deficiency.We report the case of a neonate with selective iga deficiency and multiple brain abscesses diagnosed with sonography. brain sonography revealed multiple abscesses in the left hemisphere; the abscesses ranged from 10 to 20 mm. Cultures obtained from the cerebrospinal fluid and blood were positive for proteus mirabilis. The neonate responded promptly to broad-spectrum antibiotic therapy and had no neurologic sequelae. Because iga deficiency is associated with infections, we believe it was a predisposing factor for the brain abscesses.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
13/167. Spontaneous resolution of profound hypogammaglobulinemia.A 3-month-old, full-term female infant was hospitalized with pneumonia and bronchiolitis. Laboratory studies revealed a profoundly low level of IgG (41 mg/dL) and low level of IgA (< 6.67 mg/dL). Other causes of immunodeficiency were ruled out, and there was no evidence of protein loss to account for the low immunoglobulin levels. The immunoglobulin levels normalized over time. Our patient had a transient hypogammaglobulinemia of infancy, with severely low IgG and low IgA levels. We found no other reports of cases with such low values of IgG that proved to be transient.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
14/167. Anti-D immunoglobulin treatment for thrombocytopenia associated with primary antibody deficiency.AIMS: To review our experience of anti-D immunoglobulin for immune thrombocytopenia (ITP) in patients with primary antibody deficiency. methods/patients: A retrospective case notes review of four Rhesus positive patients with ITP and primary antibody deficiency, treated with anti-D. patients were refractory to steroids and high dose intravenous immunoglobulin (IVIG). Two patients were previously splenectomised. RESULTS: All patients responded to anti-D immunoglobulin. Improved platelet counts were sustained for at least three months. Side effects included a fall in haemoglobin in all cases; one patient required red blood cell transfusion. Two patients had transient neutropenia (< 1 x 10(9)/litre). CONCLUSION: Anti-D immunoglobulin may be an effective treatment for antibody deficiency associated thrombocytopenia, even after splenectomy. Anti-D immunoglobulin may have considerable clinical advantages in this group of patients, where treatments resulting in further immunosuppression are relatively contraindicated.- - - - - - - - - - ranking = 1.1666666666667keywords = deficiency (Clic here for more details about this article) |
15/167. The progressive appearance of multiple urinary Bence-Jones proteins and serum paraproteins in a child with immune deficiency.Multiple urinary Bence-Jones proteins and serum paraproteins were found in a child with type I dysgammaglobulinaemia (Seligmann et al., 1968). These showed a continually evolving pattern over a period of 4 months in relation to systemic infections and with no evidence of underlying malignancy.- - - - - - - - - - ranking = 0.66666666666667keywords = deficiency (Clic here for more details about this article) |
16/167. Community-acquired pseudomonas aeruginosa pneumonia complicated with loculated empyema in an infant with selective iga deficiency.pseudomonas aeruginosa is widely prevalent in the hospital environment, especially in intensive care units. Selective iga deficiency is characterized by a serum IgA level less than 5 mg/dl with no deficiency of other immunoglobulins. The occurrence of community-acquired P. aeruginosa pneumonia with empyema is rare in pediatric patients. We present a 10-month-old male infant who was referred due to persistent fever and progressive respiratory distress for 1 week. A chest radiograph revealed a right lobar pneumonia with pleural effusion. P. aeruginosa that was subsequently isolated from both blood and pleural effusion cultures. The patient received treatment with ceftazidime and intrapleural instillation of urokinase to promote drainage of empyema. Subsequent immunological screening revealed a very low serum IgA level (<5 mg/dl). We present our experience in successfully treating a loculated empyema with intrapleural instillation of urokinase in an infant. It is also important for pediatricians to be aware that they should be alert for the patient who present with respiratory infections due to unusual organisms. An advanced immunological study to investigate the underlying disorders in these patients is mandatory.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
17/167. iga deficiency: a report of three cases from thailand.Selective iga deficiency has been reported to be the most common primary immunodeficiency disease in Western countries. A markedly lower frequency of this condition has been reported in the Japanese population. While most of the IgA deficient cases are healthy, some patients develop significant recurrent sinopulmonary infections, allergic disorders and autoimmune diseases. Herein, we report three cases of iga deficiency among Thai patients, all of whom suffered from chronic sinopulmonary infections. Two of the three patients had absolute iga deficiency while the third had a partial iga deficiency. The associated conditions found in these three patients were deficiencies of an IgG subclass, allergic rhinitis and lupus nephritis. The youngest child (5 years old boy with lupus nephritis) expired from pneumocystis carrinii pneumonia complicated with adult respiratory distress syndrome.- - - - - - - - - - ranking = 1.5keywords = deficiency (Clic here for more details about this article) |
18/167. The syndrome of chronic mucocutaneous candidiasis with selective antibody deficiency.BACKGROUND: Most patients with chronic mucocutaneous candidiasis (CMC) have a selective defect of cell-mediated immunity against candida albicans (as demonstrated by cutaneous anergy and decreased lymphoproliferative responses to Candida antigen) and intact antibody responses. Many CMC patients also develop infections with other organisms, suggesting a more extensive immunologic defect. OBJECTIVES: The aim of this study was to describe a patient with CMC and selective antibody deficiency and identify eight similar previously reported patients. DATA SOURCES: Relevant articles in the English language derived from searching the medline database were used. RESULTS: We describe an 18-year-old male patient who was identified with CMC as an infant and later developed immunoglobulin (Ig)G2, IgG4, and iga deficiency at age 12 associated with poor antibody responses to vaccine antigens. We have identified eight other previously reported CMC patients with selective antibody deficiencies and bacterial infections. IgG2 deficiency was present in all nine patients, and was associated with IgG4 deficiency in 8 patients and iga deficiency in 3 patients. Six patients had poor or absent antibody responses to pneumococcal polysaccharide vaccine, and all nine patients developed severe recurrent lung infections. CONCLUSIONS: We suggest that these cases represent a distinct phenotype of CMC and should be studied for common histocompatibility leukocyte antigen types and molecular defects.- - - - - - - - - - ranking = 1.5keywords = deficiency (Clic here for more details about this article) |
19/167. iga deficiency with membranous glomerulonephritis: a case report and review.Selective immunoglobulin a (IgA) deficiency may result in a predisposition to recurrent sinopulmonary infection and allergic diseases. iga deficiency may also play a role in the development of autoimmune disorders. Selective iga deficiency associated with glomerulonephritis was rare, while the clinical presentation in iga deficiency-associated glomerulonephritis was variable. We report an 83 year-old male with selective iga deficiency associated with membranous glomerulonephritis. He presented with nephrotic syndrome. Percutaneous renal needle biopsy showed diffuse global thickening and rigidity of glomerular capillary walls, mildly diffuse segmental expansion of mesangial matrix, focal and cortical scar with segmental obsolescence of glomeruli. Heavy IgG and moderate C3 deposits were found on immunofluorescence. We also review the previous cases of iga deficiency with glomerulonephritis. Several clues were rendered to establish the association between iga deficiency and membranous glomerulonephritis.- - - - - - - - - - ranking = 1.8333333333333keywords = deficiency (Clic here for more details about this article) |
20/167. Diabetic muscle infarction associated with multiple autoimmune disorders, iga deficiency and a catastrophically poor glycaemic control: a case report.We report a case of diabetic muscle infarction in a 22-yr-old woman, with an 11-yr history of poorly controlled Type 1 diabetes complicated by laser-treated pre-proliferative retinopathy, macroalbuminuria and severe autonomic neuropathy, also affected by iga deficiency, autoimmune hypothyroidism, coeliac disease and polygenic familiar hypercolesterolaemia. She was admitted to our Hospital for pain to the left thigh hindering her from walking. The pain had appeared without trauma about 2 months before admission, and worsened progressively in spite of anti-inflammatory drugs. Clinical picture (localised tender mass without skin signs of inflammation in an afebrile patient) and laboratory data (erythrocyte sedimentation rate 113 mm in 1 hr, fibrinogen 635 mg/dl) suggested the diagnosis of diabetic muscle infarction. magnetic resonance imaging (MRI) confirmed this hypothesis showing a hyperintense area in T2-weighted sequences at adductor muscle group with enhancement after intravenous contrast. Symptoms subsided over the following 4 weeks after bed rest, analgesics, aspirin and a good glycaemic control. The 3-month follow-up MRI showed total recovery. At hospital admission, the patient presented a very poor glycaemic control (HbA1c 15.5%). After discharge, she started--in order to avoid the weight gain associated with intensive insulin therapy--a daily intense isometric training, undergoing frequent hypoglycaemic episodes. In a few months, in spite of repeated laser treatment, retinopathy progressed to the proliferative stage with bilateral vitreous haemorrhages and visual acuity decreased dramatically notwithstanding vitrectomy. This case confirms the association of diabetic muscle infarction with poorly controlled long-standing diabetes with microvascular complications, suggests the possible role of autoimmunity, and underlines the risk of repeated hypoglycaemic episodes and isometric exercise in the progression of pre-proliferative retinopathy.- - - - - - - - - - ranking = 0.83333333333333keywords = deficiency (Clic here for more details about this article) |
| <- Previous || Next -> |