Maria Elisa Andrade

Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the β1 Subunit of the Interleukin (IL)–12/IL-23 Receptor

BACKGROUND Paracoccidioides brasiliensis is a facultative intracellular dimorphic fungus that causes paracoccidioidomycosis (PCM), the most important deep mycosis in Latin America. Only a small percentage of individuals infected by P. brasiliensis develop clinical PCM, possibly in part because of genetically determined interindividual variability of host immunity. However, no primary immunodeficiency has ever been associated with PCM. METHODS We describe the first patient, to our knowledge, with PCM and a well-defined primary immunodeficiency in the beta 1 subunit of the interleukin (IL)-12/IL-23 receptor, a disorder previously shown to be specifically associated with impaired interferon (IFN)-gamma production, mycobacteriosis, and salmonellosis. RESULTS Our patient had a childhood history of bacille Calmette-Guérin disease and nontyphoid salmonellosis and, at the age of 20 years, presented to our clinic with a disseminated (acute) form of PCM. He responded well to antifungal treatment and is now doing well at 24 years of age. CONCLUSIONS This unique observation supports previous studies of PCM suggesting that IL-12, IL-23, and IFN-gamma play an important role in protective immunity to P. brasiliensis. Tuberculosis and PCM are thus not only related clinically and pathologically, but also by their immunological pathogenesis. Our study further expands the spectrum of clinical manifestations of inherited defects of the IL-12/IL-23-IFN-gamma axis. Patients with unexplained deep fungal infections, such as PCM, should be tested for defects in the IL-12/IL-23-IFN- gamma axis.

Angioedema hereditário: considerações sobre terapia

PURPOSE: Hereditary Angioedema was first described by William Osler in 1888 and it is caused by a hereditary or acquired deficiency of C1 esterase inhibitor (C1-INH). Treatment is indicated for acute attacks or prophylaxis of angioedema which occur in the subcutaneous tissue respiratory or gastrointestinal tracts. Treatment includes attenuated androgens, inhibitors of kininogen or plasminogen, like tranexamic acid or e-aminocaproic acid and the administration of C1-INH concentrate. We describe the peculiarities of the treatment chosen for 10 patients (4 families) with HAE and their evolution. METHODS: Ten patients (1-38 years old) with HAE were diagnosed by clinical history and laboratory evaluation. The following tests were performed for the complement system: C1-INH, C4 and C3 levels and hemolytic assay (CH50 and APH50) for the classic and alternative pathways. Treatment was initiated considering severity of symptoms, age, gender and therapeutic response of the patient. RESULTS: Clinical evaluation showed: 4/10 patients with recurrent subcutaneous edema; 3/10 with previous laryngeal edema and 3/10 with sporadic symptoms. Different severity of symptoms was verified in the same family. The laboratory evaluation detected: low C1-INH levels (10/10); low serum C4 level (8/10); undetectable CH50 (3/10) and low CH50 levels (6/10); low APH50 levels (2/10). Six out of ten patients did not receive any specific treatment and 2 of them had high risk of asphyxia. One adolescent had been controlled with e-aminocaproic acid, one child had been changed from danazol to tranexamic acid, a 30 year old female patient had received oxandrolone and a 38 year old man had been treated with danazol. CONCLUSIONS: Although HAE is caused by the same defect and affects members of the same family, various approaches have been taken to treat these patients. We observed different alternatives of prophylactic therapy for HAE, of which some did not require drug therapy.

Profile of the contact tests standard and cosmetic of the Hospital Público do Servidor Estadual de São Paulo

Methods Retrospective analysis of contact test results, performed with the standard contact test batteries (30 substances) and cosmetics (10 substances) in patients with cutaneous symptoms suggestive of contact dermatitis obtained through database division of Allergy and Immunology of the HSPEIAMSPE in the period January to December 2013. The contact test is recommended by Brazilian Study Group Contact Dermatitis (GBEDC). It was performed reading after 48 and 96 hours, as international criteria Contact Dermatitis Reserch Group (ICDRG,). Statistical analysis by the test of equality of proportions.

Predictive value of use-test in patients with suspected latex allergy

Methods A total of 59 cases were included in this study. Among those, 44 ( 74,5 %) had suggestive clinical history for latex allergy (SCHLA), and were submitted to latex skin prick test (SPT) and serum latex specific IgE test (sIgE– Immulite/Siemens) ; and 15 ( 25,5%) were healthy subjects, wich were considered negative controls for the diagnostic procedure. All the cases were submitted to LUT according to the service’s protocol.

Melkersson-rosenthal syndrome associated with 21 trisomy as a differential diagnosis of angioedema

Background The Melkersson-Rosenthal Syndrome (MRS) is a rare disease that often affects young adults and is characterized by the presence of a painless orofacial edema, congenital fissured tongue and recurrent unilateral or bilateral facial palsy. No predilection for sex or race. Although its etiology is unknown it is believed that genetic, vasomotor, infectious and allergic disorders may be associated. The diagnosis can be made by the association of symptoms with lip biopsy, which shows in the initial stage dilated lymphatics with aggregates of lymphocytes, histiocytes and plasma cells, and in the later stages there is granulomatous inflammation, no caseous with Langerhans giant cells. Due to the rarity of MRS, it should always be included in the differential diagnosis: inflammatory pseudotumor, allergic phenomena, Crohn’s disease, hereditary angioedema, sarcoidosis, lymphangioma and hemangioma.

Notalgia Paresthetica as a differential diagnosis of chronic itching: report of two cases

Background Notalgia Paresthetica is part of the differential diagnosis of chronic itching. For years it was confused with one of the clinical varieties of cutaneous amyloidosis, being called “dorsal amyloidosus lichen”, however, it was observed that the deposition of amyloid substance is not the cause, but the consequence of pruritus. It is characterized by itching and hyperpigmentation, usually in the scapular region. Symptoms appears in the areas of T2 to T6 dermatomes and affect more frequently females above 50 years. The pathophysiology involves the anatomical path of the spinal nerves, as well as neuropeptides released by nerve fibers in the peripheral nervous system. Some works relates it to the changes in the spine (compressions, hernias and trauma). The diagnosis is clinical with complementary examinations, such as CT and MRI. There is not a specific treatment, requiring a multidisciplinary approach.

Common variable immunodeficiency and nodular lynphoid hyperplasia: case report

Background Nodular lymphoid hyperplasia (NLH) of intestine is an extremely rare lymphoproliferative disorder of uncertain etiology. Usually, polyps benign lymphoid tissue are present in the intestinal mucosa. It may present as an asymptomatic or manifest with gastrointestinal symptoms such as abdominal pain, chronic diarrhea, occult bleeding or intestinal obstruction. NLH found in association with common variable immunodeficiency (CVI) constitutes an increased risk for malignant transformation.

Evaluation of patients with angioedema in accompaniment in the allergy and immunology HSPE / SP

Background Angioedema is defined as delimited edema that compromises dermis and subcutaneous. May have different causes hypersensitivity, autoimmune, idiopathic, physical factors, angiotensin-converting enzyme inhibitors and C1 esterase inhibitor consumption or disability. The physiopathologic mechanisms depend on the cause. In addition to detailed history, additional tests are needed for targeting of etiology. Our Objective was evaluate the profile of patients treated in outpatient Angioedema Allergy and Immunology HSPE.