Hereditary angioedema: a Taiwanese family with a novel gene mutation.

Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Affected individuals have attacks of swelling involving almost any part of the body. We studied a family with 15 living members, including a 16-year-old girl who had 3 attacks of angioedema in 2 years. Her paternal uncle had died of asphyxiation during an attack 15 years previously. We analyzed the blood of each family member for C3, C4, and C1-INH levels and sequenced the SERPING1 (formerly C1NH) gene that codes for C1-INH. Six individuals had decreased serum levels of C4 and C1-INH, and they were all found to have a single nucleotide A deletion at codon 210 of the gene, 1210fsX210, a novel mutation that accounts for the HAE in this family.

A randomized controlled trial of cetirizine plus pseudoephedrine versus loratadine plus pseudoephedrine for perennial allergic rhinitis.

The purpose of this study was to compare the safety and efficacy of cetirizine plus pseudoephedrine (C+P) with loratadine plus pseudoephedrine (L+P) in the treatment of perennial allergic rhinitis. This was a double blind, randomized, parallel trial with an active control. Subjects aged 12 to 70 years with perennial allergic rhinitis for at least 2 years were enrolled and randomized to receive either of the active study medications plus a placebo resembling the other, twice daily for 4 weeks. Nasal total symptom scale (NTSS) including sneezing, rhinorrhea, nasal itching and nasal stuffiness is evaluated by subjects daily and at baseline, 2 weeks, and 4 weeks by the investigator as efficacy measurement. A total of 51 eligible patients were enrolled and 45 patients completed the treatment course. Both groups had significant reductions in NTSS after 4 weeks of treatment as assessed by the subjects, but there was no significant difference between the two groups (mean +/- SD) reduction of 4.25 +/- 2.45 with C+P vs. 3.52 +/- 2.41 with L+P, p = 0.215. As assessed by the investigator, sneezing was significantly better at 2 weeks (-1.13 vs. -0.52, p = 0.028) and nasal congestion at 4 weeks (-1.71 vs. -1.19, p = 0.031) in subjects treated with C+P compared to those treated with L+P. There were 37 treatment-related adverse events (5 in 4 subjects in the C+P group and 32 in 16 subjects in the L+P group). It was concluded that both cetirizine plus pseudoephedrine and loratadine plus pseudoephedrine are efficacious for perennial allergic rhinitis in Taiwanese subjects. Relief of sneezing and nasal congestion may be marginally better with the cetirizine preparation, which also seemed to be slightly better tolerated, although the incidence of side effects did not differ significantly.

Risk factors and characteristics of early-onset asthma in Taiwanese children.

BACKGROUND AND PURPOSE: Early-onset asthma has been reported to be associated with a family history of allergy and exposure to environmental factors. This study was designed to evaluate the relationship between age of onset of asthma and genetic and environmental factors with asthma severity in Taiwanese children. METHODS: A group of 352 children with asthma (220 males and 132 females), ranging in age from 5 to 15 years, were enrolled in this study. The subjects were divided into 2 groups: early-onset asthma (up to and including age 3) and late-onset asthma. General characteristics including family history of allergies and exposure to domestic pets and tobacco smoke were recorded. The subjects underwent pulmonary function testing and analysis of serum immunoglobulin E (IgE), eosinophil counts, and specific IgE for common allergens. RESULTS: Early-onset asthma was present in 149 subjects and late-onset asthma in 203. Family history of allergies included a sibling with asthma or urticaria predisposed to early-onset asthma (asthma, p=0.034; urticaria, p=0.024). Food and milk allergen sensitization were more common in early-onset asthma (food allergens, p=0.025; milk, p=0.034). Children with early-onset asthma had higher eosinophil counts (p=0.041). However, there was no correlation between age at onset and pulmonary function testing, the levels of total IgE and IgE specific for Dermatophagoides pteronyssinus or Dermatophagoides farinae. CONCLUSIONS: A history of asthma or urticaria in a sibling is a risk factor for early-onset asthma. A greater prevalence of food allergen sensitization and high eosinophil counts are characteristic of early-onset disease.

Deficiency of the seventh component of complement in a Taiwanese boy.

Inherited complement deficiencies are rare, particularly those associated with late components of the complement cascade. We report a 5-year-4-month-old Taiwanese boy with systemic meningococcal infection who had undetectable CH50 level of < 6 U/mL (normal, 32.6-39.8 U/mL). Levels of C3, C4, C5, C6 and C8 were normal, but C7 was undetectable (< 5.8 mg/dL; reference, 55-85 mg/dL). The patient's sister was also C7-deficient (CH50 < 6 U/mL, C7 < 5.8 mg/dL). His father's CH50 was 25.9 U/mL and C7 was 27.8 mg/dL. His mother's CH50 was 31.2 U/mL and C7 was 22.7 mg/dL. His parents thus both had a partial complement deficiency, indicating an autosomal codominant inheritance pattern. Awareness of the possibility of late complement deficiency is important as they comprise a small percentage of patients who present with disseminated meningococcal disease or other serious infections caused by encapsulated organisms.

De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma.

BACKGROUND: X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of all immunoglobulins and the absence of mature B cells, is caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). Most patients have recurrent sinopulmonary infection. Infections usually occur in multiple locations across time, but single infection may be limited to one anatomic location. OBJECTIVES: To report a case of atypical XLA with recurrent pyoderma and to observe the immunologic changes in the patient in 10 years. METHODS: Immunologic investigations, skin wound culture, and molecular study with DNA sequencing were performed. RESULTS: The patient was originally diagnosed as having common variable immunodeficiency disease because of the presence of circulating B cells (CD19+ B cells: 7%) at 11 years old. On further evaluation at the age of 20 years, flow cytometric analysis of lymphocytes showed only 0.4% B cells. The molecular study with DNA sequencing of the patient showed a point mutation in complementary DNA 1630 A>G(p.R544G) in the BTK gene, indicating that the patient has XLA. The mutation analysis of the BTK gene revealed a normal DNA sequence in the other family members. CONCLUSIONS: This case is an important example of a possible presentation of XLA with a predominant skin manifestation, and it demonstrates that maintaining a high level of clinical suspicion is essential for the diagnosis of XLA in a child with recurrent pyoderma.

DiGeorge syndrome associated with solitary median maxillary central incisor.

DiGeorge syndrome is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. Although most patients have a common microscopic deletion in chromosome 22q11.2, marked clinical variability exists. A solitary median maxillary central incisor (SMMCI) is a rare dental anomaly which may be an isolated occurrence or associated with congenital nasal airway abnormalities or holoprosencephaly. We report a patient with DiGeorge syndrome who was diagnosed at nearly 1 month of age and was later found to have a solitary median central incisor. Initially, the patient presented with recurrent episodes of respiratory distress attributed to partial airway obstruction, one of the phenotypic features of SMMCI. A fluorescence in situ hybridization study showed a chromosome 22q11.2 deletion.

Chlamydia trachomatis pneumonia: experience in a medical center.

Chlamydia trachomatis is one of the important causes of afebrile pneumonia in infants. The purpose of this study was to evaluate the demographic features, clinical manifestations, and outcome of C. trachomatis pneumonia patients seen during the past 10 years in one medical center. We reviewed the records on 30 patients with a diagnosis of C. trachomatis pneumonia. The diagnosis was based on characteristic clinical features and confirmed by culture, serologic testing, or polymerase chain reaction (PCR). Clinical features including age, sex, symptoms at the time of admission, laboratory data, and treatment were analyzed. Of the 30 patients (17 males and 13 females), 29 (96%) were less than 4 months old (range 10 days to 5 months). All patients had productive cough followed by tachypnea. Three patients (10%) presented with apnea. Four (13%) had conjunctivitis. Fever was present in only 3 (10%), of whom 2 also had concurrent respiratory syncytial virus infection. Peripheral eosinophilia (eosinophils > or = 400/mm3) was present in 14 (47%) patients. Hyperinflation was seen on chest x-ray in 15 patients. All infants were treated with erythromycin and responded well. The mean time to clinical improvement was 3.53 days after the start of treatment. The mean duration of hospitalization was 8.97 days (range, 3 to 17 days). No patients died. Pediatricians and general practitioners must have a high index of suspicion for chlamydial infection in afebrile infants presenting with tachypnea, peripheral eosinophilia, and hyperinflation on chest x- ray during the first four months of life.

Systemic anaphylaxis after the ingestion of pancake contaminated with the storage mite Blomia freemani.

BACKGROUND: Systemic anaphylaxis after the ingestion of mite-contaminated food has rarely been reported. OBJECTIVE: To describe an 8-year-old boy in whom systemic anaphylaxis developed shortly after the ingestion of pancakes prepared with commercial pancake flour. METHODS: The patient underwent skin prick testing for house dust mites and with uncontaminated and mite-contaminated pancake flour. Specific IgE for mites and the main ingredients of the pancake flour were also evaluated, with titers for Der p 1, Der f 1, and Blo t 5 quantitated using immunochemical methods. A sample of pancake flour was examined microscopically for mites. RESULTS: The patient had positive skin prick test results to contaminated pancake flour extract (1 g/5 mL), Dermatophagoides pteronyssinus, and Dermatophagoides farinae but a negative skin test response to uncontaminated pancake flour. The patient's serum specific IgE analysis was positive for antibodies to dust and storage mite allergens. There was no response, however, to the main ingredients of the pancake mix. Microscopic examination of the pancake flour revealed the storage mite Blomia freemani. Using an immunochemical assay, we found that the contaminated flour contained 5.4 microg/g of the allergen Blo t 5 but no Der p 1 or Der f 1. CONCLUSIONS: This patient's anaphylactic episode was the result of ingestion of the storage mite B. freemani. To our knowledge, this is the first reported systemic hypersensitivity reaction caused by this mite anywhere in the world.

DiGeorge syndrome with truncus arteriosus: report of one case.

DiGeorge syndrome is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical facial dysmorphism. We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2 deletion. Transient lymphocytopenia was noted for 5 days after birth and hypocalcemia was corrected with calcium gluconate administration. Surgical correction of the truncus arteriosus was performed at the age of 3 months. Unfortunately, the patient subsequently had an unwitnessed cardiac arrest, and despite resuscitation, died at the age of 4 months.