First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes.

INTRODUCTION: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton tyrosine kinase (BTK) gene. CASE REPORT: A 14-year-old Colombian patient with clinical characteristics of Bruton agammaglobulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. DISCUSSION: Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature.

First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes

Introduction: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton tyrosine kinase (BTK) gene. Case report: A 14-year-old Colombian patient with clinical characteristics of Bruton agammaglobulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. Discussion: Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature (AU)

Lymphocytic interstitial non-HIV-related pneumonia in pediatrics: a case report.

Lymphocytic interstitial pneumonia (LIP) in pediatric patients without human immunodeficiency virus (HIV) infection remains a poorly characterized and enigmatic disease. Immunological dysregulation, mutations in the COPA gene, and increased morbidity and mortality have been reported in these patients. We present a case of LIP in a pediatric patient without HIV infection. This patient was infected with human T-lymphotropic virus type 1 (HTLV-1) and required right lower lobectomy with pathological findings compatible with lymphocytic interstitial pneumonia. In addition, bronchiectasis, dermatological involvement, and malnutrition were documented. However, no autoimmune disease, polymyositis, myelopathy, or opportunistic infections were found. There were no abnormalities in cellular and humoral immunity. A genetic study identified heterozygous mutations in the SCNN1B, FCHO1, and IL7R genes using single exome sequencing of coding and splicing regions. Although these heterozygous variants are not reported to be aetiological for LIP or diagnostic for the patient's congenital immunodeficiency, we believe they are associated with the severe lung damage seen in the patient's case.

Food allergy spectrum in the tropic: clinical and epidemiological profiles in a colombian hospital. A cross-sectional study.

Introduction: Food allergy affects 2-10% of the general population; it is more frequent among children than among adults, and it is one of the leading causes of anaphylaxis. Diagnosis of food allergy requires a detailed medical history, skin tests, specific immunoglobulin E (IgE) tests for the food involved, and an oral challenge as final confirmation. Objectives: This study aimed to describe the clinical and epidemiological characteristics of patients who underwent oral food challenges for suspected food allergies in a reference center in Colombia. Methodology: An observational, descriptive, cross-sectional and retrospective study was conducted. Data were retrospectively collected from patients who were evaluated in the allergology service and suspected of food allergy from 2011 to 2018. Quantitative variables are presented as means or medians depending on the normality of the distribution (assessed by the Shapiro-Wilk test), and categorical variables are presented as frequencies and percentages. Results: A total of 215 controlled open challenges were performed on 176 patients, most of whom were children (69%). Thirty-one patients (17%) required another oral challenge with a second food, and 11 (6.25%) required another oral challenge with three foods. Twelve oral challenges (5.58%) were positive. Of these, five challenges were positive for cow's milk, 5 were positive for shrimp, and 2 were positive for legumes (peanuts and lentils). Conclusion: The frequency of confirmed food allergies and the profile of food allergies in our population differs from that reported in other parts of the world.

Descriptive analysis of a simplified approach to low-risk drug hypersensitivity reactions.

BACKGROUND: Evaluation of drug allergy is intricate because of nonstandardized testing and challenge method variability. OBJECTIVE: To determine the clinical and epidemiologic characteristics of a large group of patients with suspected drug allergies who underwent 1 or more provocation tests (PT), and to establish whether performing this test in fewer steps is safe and effective. METHODS: A cross-sectional descriptive study was conducted in patients with suspected drug allergies who underwent a provocation test at the allergy service of Fundación Valle del Lili, Cali, Colombia, from January 2011 to August 2017. RESULTS: A total of 508 patients underwent 615 PTs; the median age was 34.5 years (range, 1-87 years) and 332 were women (65.3%). The most frequently implicated drugs were nonsteroidal anti-inflammatory drugs in 362 patients (58.9%), followed by beta-lactam antibiotics in 170 (27.6%), and non-beta-lactam antibiotics in 21 (3.4%). The most typically described manifestations were cutaneous urticaria in 282 patients (45.8%) and angioedema in 220 (35.7%). Most patients underwent the PT without performing other previous tests, which were done in only 92 patients (18.3%). Skin prick tests and intradermal reaction tests were performed in 81 patients (15%); all results were negative. In 519 patients (84.3%), the PT was performed in 2 steps without a placebo. Of the PTs performed in 2 steps, 492 (94.8%) had negative results. In addition, PT was performed in 195 patients (37.6%) in whom 2 equal doses of the drug was administered; 186 patients (95.4%) had negative results. CONCLUSION: Performing an open PT (without previous tests) in 2 steps among patients with low-risk drug reactions is safe. However, every case must be analyzed individually in terms of the risk-benefit ratio.