Celiac disease in the context of airborne allergen-associated chronic vulvo-vaginitis.

We present a woman with a three-year history of severe chronic urticaria and recurrent vulvo-vaginal Candidiasis in the setting of seasonal allergic rhinitis. Her past medical history was significant only for Bell's palsy in her childhood. Her review of systems was otherwise negative (specifically: no history of diarrhea, weight loss, malabsorption, anemia, nor eczema). Extensive testing revealed seasonal sensitivities to outdoor allergens and celiac disease. Repeating the evaluation six months after initiating a wheat-free diet, her vulvo-vaginal symptoms resolved.

Sustained improvement of psoriatic lesions in the course of sublingual immunotherapy for airborne allergens: clinical evidence of cross-tolerance.

BACKGROUND: A patient with psoriasis is presented who was treated with sublingual immunotherapy for airborne allergens for allergic rhinitis. Allergic rhinitis and psoriasis have entirely different cytokine profiles and result from different aberrations of the immune response. Furthermore, T-cell activation in the two diseases uses different presentation systems, psoriasis being a CD8 cytotoxic cell response requiring presentation through the Major Histocompatibility Complex I, while allergic rhinitis and its treatment with sublingual immunotherapy depend on CD4 T-helper cells and presentation by the Major Histocompatibility Complex II. The rapid and impressive improvement of the psoriatic lesions in the presented patient may, along with evidence of subsiding Th1 activity, give rise to the hypothesis that tolerogenic-to-allergen changes induced by sublingual immunotherapy may induce cross-tolerance and the selective emergence of cytotoxic T cell clones with lessened psoriasis-producing activity.

Allergen-specific sublingual immunotherapy in the treatment of migraines: a prospective study.

BACKGROUND: Inflammation is a cardinal feature of migraines. A number of observations point to the possibility that an allergic component of a type I (IgE-mediated) nature may be involved in at least some migraineurs. Not only are migraines frequent among patients with allergic rhinitis but quite frequently the same medical approaches are beneficial in both diseases: anti-inflammatories, adrenergic tone modifiers, immune suppressants. The effect that immunotherapy for allergic rhinitis has upon migraines is studied. METHODS: Patients were recruited who suffered from typical migraines but were not treated with regular migraine controllers (beta blockers, antiepileptics, tricyclics, etc.). They underwent allergen-specific, sublingual immunotherapy with physician-formulated, individually-prepared airborne allergen extracts. Response to treatment was assessed with serum C-reactive protein level changes and symptom scores. Serum C-reactive protein (CRP), an acute phase reactant, was chosen as a marker because its usefulness has already been assessed in interictal migraine activity. RESULTS: Interictal serum CRP levels decline was observed in the course of sublingual immunotherapy. Concurrent improvement in symptom scores for both rhinitis and migraines was also observed. CONCLUSIONS: In patients with allergic rhinitis, migraine development and course may have a significant allergic component. Assessment of migraineurs for the possibility of coexisting allergic rhinitis is justified. Treatment of allergic rhinitis by immune response modifiers, such as immunotherapy, may have a place in the management of migraines for these patients.

Pemphigus vulgaris treated with allogeneic hematopoietic stem cell transplantation following non-myeloablative conditioning.

OBJECTIVES: Successful treatment of severe, refractory Pemphigus vulgaris (PV) is reported. METHODS: Reduced intensity, non-myeloablative conditioning was employed, followed by allogeneic hematopoietic stem cell transplantation (HSCT) from a fully matched sibling. RESULTS: Treatment of refractory PV with myeloablation and subsequent allogenic HSCT has been previously reported, and sustained remission with this approach has been achieved. Toxicity, however, related to condition regimens remains high. CONCLUSION: Since no cytotoxic chemotherapy was used, it is hereby hypothesized that clinical improvement may result from regulatory action from the donor's marrow: a "graft modifying the disease" effect, which may prove useful in the management of autoimmune diseases.

Systemic reactions and fatalities associated with allergen immunotherapy.

OBJECTIVE: The primary objective of this review is to discuss systemic allergic reactions and risk factors associated with the injection of allergen vaccines. DATA SOURCES: A review of the literature on anaphylactic reaction, adverse effects, and fatalities associated with allergen immunotherapy (IT) was conducted. STUDY SELECTION: The expert opinion of the author was used to select relevant data. RESULTS: Systemic allergic reactions associated with the injection of allergen vaccines usually begin within 20 minutes. However, on occasion, they begin 20 to 30 minutes or longer after an injection. Such reactions can also occur after allergen skin testing. Most reactions associated with skin testing and allergen IT are mild and readily respond to appropriate treatment. However, severe and even fatal reactions have been reported with both skin testing and IT. CONCLUSIONS: Risk factors for skin testing and allergen IT include: 1) patients, particularly asthmatic patients, suffering with seasonal exacerbation of their symptoms; 2) patients who demonstrate exquisite sensitivity to particular allergen(s); 3) patients on beta-blockers; 4) patients with asthma, especially if their asthma is unstable; 5) patients in whom rush IT is used; and 6) patients in whom high doses of potent standardized allergen vaccines are used. It is essential that strict attention be paid to the risk factors for systemic reactions, and that techniques and management be initiated both before and after skin testing or IT to minimize these risks. Done properly, the risk of skin testing and IT is minimal.

Prevalence of upper respiratory symptoms in patients with symptomatic gastroesophageal reflux disease.

UNLABELLED: This study evaluated the prevalence of upper respiratory symptoms (URS) among patients with symptomatic gastroesophageal reflux disease (GERD). Seventy-four subjects with heartburn completed a URS questionnaire before dual-probe, 24-h esophageal pH monitoring. The URS questionnaire was also completed by 74 normal volunteers without previous or current symptoms of GERD. Esophageal pH monitoring results were classified as normal, distal, or proximal and distal gastroesophageal reflux using standardized criteria. Mean URS scores (+/- SD) were 8.31 +/- 3.98 in the 52 subjects with GERD and 4.57 +/- 3.57 in the 22 subjects with negative pH probe studies, p = 0.02. Subjects with negative pH probe studies and normal volunteers scored similarly on the URS questionnaire. Reflux episodes/24 h correlated with URS scores, r = 0.47, p = 0.0001. Seventy-five percent of subjects with upper reflux, 68% of subjects with lower reflux, 36% of subjects with normal esophageal pH studies, and 9% of normal volunteers reported laryngeal symptoms for at least 5 d/mo. Sixty-nine percent of subjects with upper reflux, 50% of subjects with lower reflux, 31% of subjects with normal pH studies, and 14% of normal volunteers reported nasal symptoms for at least 5 d/mo. URS are frequent among subjects with GERD. KEYWORDS: rhinitis; upper airway; gastroesophageal reflux

Allergen immunotherapy: guidelines, update, and recommendations of the World Health Organization.

Allergen immunotherapy (AIT) is the administration of increasing doses of an allergen vaccine to an allergic subject in order to reach a dose effective to improve symptoms associated with subsequent exposure to the causative allergen. This form of therapy is effective in the treatment of allergic rhinitis/conjunctivitis, allergic reactions to stinging insects, and allergic asthma. It is the only therapeutic modality that can affect the natural course of allergic diseases, and may prevent the development of asthma in patients with allergic rhinitis. AIT is indicated for patients with demonstrated specific IgE antibodies against clinically relevant allergens. The mixture of allergens to be utilized is based on the patient's history and skin and laboratory tests. The major risk of AIT is anaphylaxis. Such therapy is continued for three to five years, but the decision to discontinue it should be individualized. Interpretation of the history, physical findings, and skin and laboratory tests, the prescription and administration of allergen immunotherapy, its integration into the patient's treatment plan, and the decision to discontinue it require qualifying experience provided by specialist training in allergy and immunology.

Gastroesophageal reflux and asthma: a review of pathogenesis, diagnosis, and therapy.

Gastroesophageal reflux disease (GERD) occurs in up to one-third of the adult US population. Most affected individuals are either unaware of their condition or do not seek medical help, relying on nonprescription acid suppressants and antacids for relief. GERD, a common disorder of infancy, old age, and pregnancy, is particularly prevalent in patients with asthma. A causal relationship between the two diseases has been postulated by many investigators. The physiologic changes of asthma exacerbations and the actions of some of the medications used to treat asthma both aggravate GERD. The adverse effect of GERD on asthma and the pathophysiology of this relationship are still under debate. Some studies showed no objective improvement by spirometry of asthmatics treated for GERD, but recognized improvement in asthma symptoms and decreased use of asthma medication. Other studies, supporting GERD induction of asthma, have been performed to test two hypotheses: that asthma is exacerbated by endotracheal aspiration of gastric contents or by a reflex response to stimulation of esophageal receptors. Clinical experience has shown that early diagnosis and treatment of GERD often leads to better control of asthma.

Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22.

Multiple abnormalities were observed in a newborn infant with a deletion in the long arm of chromosome 21, from band 22q22.1-->qter. The phenotype of this infant was similar to that previously described in infants with deletions spanning the long arm of chromosome 21, from the centromere to 21q22 [Rethoré et al., 1972, Exp Cell Res 70:455-456, 1973, Ann Genet (Paris) 16:271-275]. However, as a phenotypically normal child with normal intelligence and with deletion of 21q11.1-21q21.3 has also been identified [Korenberg et al., 1991, Hum Genet 87:112-118], this case suggests that the critical region of deletion for the 21q- phenotype lies distal to 21q21, within 21q22.1-22.2.

Medullary nephrocalcinosis in nephropathic cystinosis.

Children with nephropathic cystinosis excrete large amounts of calcium and phosphate due to renal tubular Fanconi syndrome, and also receive substantial supplements of phosphate and alkalinizing agents. Since these constitute risk factors for nephrocalcinosis, we evaluated 41 children age 2 months to 15 years with nephropathic cystinosis and good renal function by performing retroperitoneal ultrasound examinations in a blinded fashion. We also retrospectively analyzed parameters of calcium and phosphate metabolism representing 216 person-years of data on these children. Fifteen children had no evidence of medullary nephrocalcinosis, while 18 had mild nephrocalcinosis, and 8 severe nephrocalcinosis; 5 had renal stones. Mean urine calcium and phosphate concentrations increased from 1.47 mM and 5.30 mM, respectively, in children without nephrocalcinosis to 1.60 mM and 5.69 mM in children with mild nephrocalcinosis to 1.66 mM and 6.19 mM in children with severe nephrocalcinosis. Mean urine pH ranged from 7.5 to 8.1. The mean (+/- SD) age of the 26 patients with nephrocalcinosis was 9.4 +/- 3.8 years compared with 5.1 +/- 3.8 years for those without nephrocalcinosis (P < 0.005). Serum calcium, phosphate, vitamin D, and parathyroid hormone did not correlate with frequency or degree of nephrocalcinosis. We conclude that nephrocalcinosis frequently accompanies nephropathic cystinosis, can be detected by ultrasound examination, and might be managed by reducing oral replacement of phosphate, calcium, vitamin D, and citrate. Consideration should be given to truncating phosphate replacement once bone growth ceases.

Classic nephropathic cystinosis as an adult disease.

OBJECTIVE: To delineate the clinical characteristics of infantile nephropathic cystinosis in adult patients who have undergone renal transplantation. DESIGN: Case series. SETTING: Clinical research unit. PATIENTS: All 36 adult patients with nephropathic cystinosis referred to the National Institutes of Health. OUTCOME MEASURES: Longevity, growth, renal allograft survival, visual acuity, endocrine insufficiency, myopathy and swallowing dysfunction, cerebral calcifications, and occupational status. RESULTS: Of the 36 patients, seven were dead, five with functioning allografts. The 1-year and 5-year graft survival rates for 30 cadaveric allografts were 90% and 75%, respectively. The patients' mean height and weight were severely retarded. Five patients were legally blind, and three others had severely impaired vision in one eye. Thirty-one (86%) of 36 patients required thyroid hormone replacement therapy. One third had a distal myopathy, and 21 had moderate to severe swallowing abnormalities. Eight patients had cerebral calcifications on computed tomographic scan. Despite these complications, the sighted patients engaged in a normal variety of occupations. Only 11 patients were receiving adequate cystine-depleting therapy with cysteamine (mercaptamine) or phosphocysteamine. CONCLUSIONS: Adult patients with nephropathic cystinosis suffer serious complications of the disease.