Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.

Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.

Adult Food Allergy Prevalence: Reducing Questionnaire Bias.

Background: Food allergy (FA) prevalence has increased in the last decades, but epidemiologic studies could show overestimated results. The objective of this study is to estimate the prevalence of immediate FA in adults in a region of Central Brazil, using a questionnaire to try to reduce misperceptions about FA reaction.

Methods: A cross-sectional study was conducted, enrolling an adult population aged 18-65 years comprised of families in a Central Brazilian city.

Esophageal eosinophilia in pediatric patients with cerebral palsy.

Objective: To describe the clinical picture, test results, and clinical evolution of patients with cerebral palsy associated with diagnosis of eosinophilic esophagitis, monitored at tertiary centre.

Methods: Cross-sectional, retrospective and descriptive study that evaluated the medical records data of pediatric patients with diagnosis of cerebral palsy and eosinophilic esophagitis in a tertiary center of pediatric gastroenterology between August 2005 and August 2013.

Results: Seven out of 131 patients with cerebral palsy had the diagnosis of eosinophilic esophagitis.

Growth parameters impairment in patients with food allergies.

Background and Aims. Food allergy (FA) is a common disease that is rapidly increasing in prevalence for reasons that remain unknown. Objective.

Primary immunodeficiency investigation in patients during and after hospitalization in a pediatric intensive care unit.

Objective: To analyze whether the patients with severe infections, admitted in the Pediatric Intensive Care Unit of the Hospital de Clínicas of the Universidade Federal de Uberlândia, underwent the active screening for primary immunodeficiencies (PID).

Methods: Retrospective study that assessed the data records of patients with any severe infections admitted in the Pediatric Intensive Care Unit, covering a period from January 2011 to January 2012, in order to confirm if they performed an initial investigation for PID with blood count and immunoglobulin dosage.

Results: In the studied period, 53 children were hospitalized with severe infections in the Pediatric Intensive Care Unit, and only in seven (13.

Clinical characteristics and sensitivity to food and inhalants among children with eosinophilic esophagitis.

Background: To understand the clinical characteristics and the diagnostic procedures in pediatric patients with eosinophilic esophagitis and to evaluate the sensitivity of the patients to food and inhalant allergens. A cross-sectional study was performed in 35 children with eosinophilic esophagitis during the time period from January 2010 to January 2011. The clinical and epidemiological data were obtained using a questionnaire and medical chart analysis.

Common variable immunodeficiency and isosporiasis: first report case.

We report a severe case of diarrhea in a 62-year-old female HIV-negative patient from whom Giardia lamblia and Isospora belli were isolated. Because unusual and opportunistic infections should be considered as criteria for further analysis of immunological status, laboratory investigations led to a diagnosis of common variable immunodeficiency (CVID). This is the first reported case of isosporiasis in a patient with CVID and illustrates the importance of being aware of a possible link, particularly in relation to primary immunodeficiency.

Spirometric parameters and levels of interferon gamma and IL-5 in induced sputum from patients with allergic rhinitis or asthma.

Background: This study was designed to analyze spirometric parameters and cytokine (interferon [IFN] gamma and IL-5) levels in induced sputum from patients with asthma or allergic rhinitis (AR) and nonatopic subjects.

Methods: Thirty-three subjects aged 18-60 years were enrolled in the present study. Eight patients had asthma without AR symptoms, 16 had AR without asthma symptoms or history, and both groups had positive skin-prick test (SPT) to aeroallergens.

Serum and salivary IgE, IgA, and IgG4 antibodies to Dermatophagoides pteronyssinus and its major allergens, Der p1 and Der p2, in allergic and nonallergic children.

Allergic rhinitis (AR) is a public health problem with high prevalence worldwide. We evaluated levels of specific IgE, IgA, and IgG4 antibodies to the Dermatophagoides pteronyssinus (Dpt) house dust mite and to its major allergens (Der p1 and Der p2) in serum and saliva samples from allergic and nonallergic children. A total of 86 children were analyzed, from which 72 had AR and 14 were nonallergic healthy children.

Local cytokines and clinical symptoms in children with allergic rhinitis after different treatments.

Background: Therapy for allergic rhinitis aims to control symptoms and improve the quality of life. The treatment of allergic rhinitis includes allergen avoidance, environmental controls, pharmacologic treatment, and specific immunotherapy.

Objectives: The aim of this study is to evaluate the clinical changes and the levels of interferon-gamma (IFN-gamma) and interleukin-5 (IL-5) in nasal lavage fluid from children with allergic rhinitis after different types of pharmacologic treatment (mometasone, montelukast, or desloratadine).

Diversity of allergen exposure: implications for the efficacy of environmental control.

Unlabelled: The prevalence of allergic diseases such as asthma, rhinitis, allergic conjunctivitis and atopic dermatitis has increased in the last decades. The relationship between allergen exposure, atopic sensitization and development of allergic diseases is widely described in the literature.

Aim: To evaluate measures for reducing allergen exposure as part of the treatment of allergic diseases.

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

We describe in this paper the phenotype-genotype analysis of a Brazilian cohort of patients with cryopyrin-associated periodic syndromes (CAPS). Patient 1 presented with an urticarial rash and recurrent fever exacerbated by cold weather, arthritis, and anterior uveitis, thus, receiving a clinical diagnosis of familial cold autoinflammatory syndrome. CIAS1 sequencing identified the T436I mutation, previously associated to a clinical phenotype of chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease.

[Indoor allergen sensitization profile in allergic patients of the allergy clinic in the University Hospital in Uberlândia, Brazil].

Objective: To evaluate allergens among patients with allergic respiratory disease attended at the Allergy Clinic of the University Hospital-Federal University of Uberlândia.

Methods: A retrospective study was performed using medical records. Patients were included if their ISAAC questionnaires were correctly filled out and their skin prick tests were positive to at least one of the allergens from Dermatophagoides pteronyssinus (Der p), Dermatophagoides farinae (Der f), Blomia tropicalis (Blo t), Canis familiaris (Can f), Felis domesticus (Fel d), Blattella germanica (Bla g) and Alternaria alternata.

Detection of immunoglobulin G antibodies to Neospora caninum in humans: high seropositivity rates in patients who are infected by human immunodeficiency virus or have neurological disorders.

Considering that little is known about the epidemiology of Neospora caninum infection in humans, particularly in populations with high Toxoplasma gondii infection rates, the present study aimed to investigate the presence of antibodies to N. caninum in T. gondii-seropositive and -seronegative individuals.

Mite and pet allergen exposure in Brazilian private cars.

Background: The role of mite and pet allergens in the development of allergic diseases has been recognized for many years.

Objective: To determine mite (Dermatophagoides pteronyssinus [Der p 1] and Dermatophagoidesfarinae [Der f 1]), cat (Felis domesticus [Fel d 1]), and dog (Canis familiaris [Can f 1]) allergen levels in Brazilian private cars.

Methods: Mite, cat, and dog allergens were measured in dust samples collected from 60 upholstered seats of private vehicles using enzyme-linked immunosorbent assays.

A comparative study of congenital toxoplasmosis between public and private hospitals from Uberlândia, MG, Brazil.

The main purpose of the present study was to examine if there is difference in terms of incidence rates of congenital toxoplasmosis among populations assisted in public and private hospitals from Uberlândia, state of Minas Gerais, Brazil. A total of 805 serum samples from cord blood were collected, being 500 from public hospital and 305 from private hospital, and all patients answered a questionnaire about pregnancy and newborns. An indirect enzyme linked immunosorbent assay (ELISA) was performed to detect IgG antibodies to Toxoplasma gondii and the positive samples were retested to verify the presence of specific IgM and IgA antibodies in a capture ELISA.

Congenital toxoplasmosis in Uberlândia, MG, Brazil.

Almost all babies suffering from congenital toxoplasmosis, if undiagnosed and untreated, will develop visual or neurological impairments by adulthood. The aim of this study was to investigate the occurrence of congenital toxoplasmosis in two hospitals from Uberlândia, Brazil. A total of 805 serum samples of cord blood were collected, 500 from public hospital and 305 from private hospital, and all patients answered a questionnaire about pregnancy and newborns.