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Learning about Kawasaki disease from COVID-19 and the Multisystem Inflammatory Syndrome in Children
Purpose of review Multisystem Inflammatory Syndrome in Children (MIS-C) is a novel syndrome that has appeared in the wake of the severe acute respiratory syndrome coronavirus -2 pandemic, with features that overlap with Kawasaki disease (KD). As a result, new interest and focus have arisen in KD, and specifically mechanisms of the disease. Recent findings A major question in the literature on the nature of MIS-C is if, and how, it may be related to KD. This has been explored using component analysis type studies, as well as other unsupervised analysis, as well as direct comparisons. At present, the answer to thi...
Source: Current Opinion in Pediatrics - November 10, 2021 Category: Pediatrics Tags: ALLERGY, IMMUNOLOGY AND RELATED DISORDERS: Edited by Jordan S. Orange Source Type: research

Immunodeficiencies: non-infectious manifestations.
CONCLUSIONS: Not only infectious conditions should raise the suspicion of immunodeficiencies, but also manifestations of allergy, inflammation, autoimmunity, lymphoproliferation, or cancer, especially if they are recurrent, associated to each other, affecting young patients, or in severe and/or difficult to treat conditions. PMID: 33176164 [PubMed - as supplied by publisher]
Source: Jornal de Pediatria - November 8, 2020 Category: Pediatrics Authors: Goudouris ES Tags: J Pediatr (Rio J) Source Type: research

Dysregulatory syndromes: the role of signal transducers and activators of transcription
Purpose of review A comparative description of dysregulatory syndromes with mutations in signal transducer and activator of transcription (STAT) genes. Recent findings STAT 1, 3 and 5b loss of function (LOF) and gain of function (GOF) mutations are a heterogeneous group of genetic disorders that range from immunodeficiency (ID) to autoimmune disease (AID), depending on the underlying signalling pathway defect. Between them, there are clear overlapping and differences in clinical presentation and laboratory findings. Summary Dysregulatory syndromes due to LOF and GOF mutations in STAT1, 3 and 5b are a particular gro...
Source: Current Opinion in Pediatrics - December 1, 2018 Category: Pediatrics Tags: ALLERGY, IMMUNOLOGY AND RELATED DISORDERS: Edited by Jordan S. Orange Source Type: research

Dysregulatory syndromes: the role of signal transducers and activators of transcription
Purpose of review A comparative description of dysregulatory syndromes with mutations in signal transducer and activator of transcription (STAT) genes. Recent findings STAT 1, 3 and 5b loss of function (LOF) and gain of function (GOF) mutations are a heterogeneous group of genetic disorders that range from immunodeficiency (ID) to autoimmune disease (AID), depending on the underlying signalling pathway defect. Between them, there are clear overlapping and differences in clinical presentation and laboratory findings. Summary Dysregulatory syndromes due to LOF and GOF mutations in STAT1, 3 and 5b are a particular gro...
Source: Current Opinion in Pediatrics - November 10, 2018 Category: Pediatrics Tags: ALLERGY, IMMUNOLOGY AND RELATED DISORDERS: Edited by Henry H. Bernstein Source Type: research

A Diagnostic Dilemma: Sometimes You ’ ll Never Know
Discussion It can be difficult to consider what is the problem when a health care provider is presented with a group of seemingly disparate signs and symptoms with a history and time course that do not match classic (or commonly atypical) disease presentations. Common things happen commonly, so when symptoms occur without the usual co-occurring symptoms, unusual symptoms or time courses, it can be challenging. The provider must develop a reasonable differential diagnosis and balance how far to go with the evaluation against how much to monitor the patient for new signs or symptoms which can provide new information. Patient...
Source: PediatricEducation.org - March 19, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

What are Indications for Allergen-specific Immunotherapy?
Discussion Allergen-specific immunotherapy (AIT) is a disease modifying treatment for allergic disease. Sometimes referred to as desensitization, the premise is to expose the patient to small but regular amounts of a specific antigen thereby building tolerance within the patient to the allergen. AIT is often underused because of safety concerns and lack of appropriately trained health care providers and facilities to safely carry out AIT treatment. There are 4 main AIT treatments options currently: SCIT – subcutaneous immunotherapy Allergen is injected into the subcutaneous skin “Shots are effective in treati...
Source: PediatricEducation.org - March 5, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders
Purpose of review: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. Recent findings: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons. In contrast, STAT3 hyperactivity is not usually related to hyperphosphorylation but rather to increased STAT3-mediated transcriptional activit...
Source: Current Opinion in Pediatrics - November 9, 2017 Category: Pediatrics Tags: ALLERGY, IMMUNOLOGY AND RELATED DISORDERS: Edited by David B. Lewis Source Type: research

Advances in paediatrics in 2016: current practices and challenges in allergy, autoimmune diseases, cardiology, endocrinology, gastroenterology, infectious diseases, neonatology, nephrology, neurology, nutrition, pulmonology
AbstractThis review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated. New diagnostic tools are available for ascertaining brucellosis, celiac diseas...
Source: Italian Journal of Pediatrics - September 16, 2017 Category: Pediatrics Source Type: research

Celiac Disease and Nonceliac Gluten Sensitivity
Gluten-related disorders include celiac disease (CD), wheat allergy, and nonceliac gluten sensitivity. CD is an autoimmune enteropathy caused by damage to small intestinal mucosa when gluten is ingested in genetically susceptible individuals. Currently, the only available treatment of CD is gluten-free diet. Several potential treatments are being researched. Wheat allergy is a hypersensitivity reaction caused by IgE-mediated and/or non-IgE-mediated immune response, and can involve the gastrointestinal tract, skin, or respiratory tract. Nonceliac gluten sensitivity is one of a variety of immunologic, morphologic, or symptom...
Source: Pediatric Clinics of North America - May 12, 2017 Category: Pediatrics Authors: Runa D. Watkins, Shamila Zawahir Source Type: research

The importance of appropriate initial bacterial colonization of the intestine in newborn, child and adult health.
Abstract The fetus does not reside in a sterile intrauterine environment and is exposed to commensal bacteria from the maternal gut/blood stream which crosses the placenta and enters the amniotic fluid. This intestinal exposure to colonizing bacteria continues at birth and during the first year of life and has a profound influence on lifelong health. Why is this important? Intestinal crosstalk with colonizing bacteria in the developing intestine affects the infant's adaptation to extrauterine life (immune homeostasis) and provides protection against disease expression (allergy, autoimmune disease, obesity, etc.) l...
Source: Pediatric Research - April 20, 2017 Category: Pediatrics Authors: Walker WA Tags: Pediatr Res Source Type: research

Who needs thyroid function testing at birth?
Introduction There have been notable advances in terms of what biochemistry laboratories can measure, how quickly they can measure and how much sample is required to do the measuring. This has improved many aspects of clinical care but ease of access and rapid feedback may increase the likelihood of babies undergoing blood tests unnecessarily. Checking thyroid-stimulating hormone (TSH) and thyroid hormone concentrations in neonates is a good case in point. Many different neonatal (and adult) symptoms and signs can be linked to abnormal levels of thyroid hormone and so it is easy to understand why doctors are keen to check ...
Source: Archives of Disease in Childhood - February 16, 2017 Category: Pediatrics Authors: Cheetham, T., Lane, L. C. Tags: Eye Diseases, Immunology (including allergy), Drugs: CNS (not psychiatric), Ophthalmology, Screening (epidemiology), Thyroid disease, Screening (public health) Leading article Source Type: research

Diagnosing haemophagocytic syndrome
Haemophagocytic syndrome, or haemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory disorder characterised by uncontrolled activation of the immune system. It can result from mutations in multiple genes involved in cytotoxicity or occur secondary to a range of infections, malignancies or autoimmune rheumatic diseases. In the latter case, it is also known as macrophage activation syndrome (MAS). Characteristic features are persistent fever, hepatosplenomegaly, petechial/purpuric rash, progressive cytopenias, coagulopathy, transaminitis, raised C reactive protein, falling erythrocyte sedimentation rate, hypertrigl...
Source: Archives of Disease in Childhood - February 16, 2017 Category: Pediatrics Authors: Sen, E. S., Steward, C. G., Ramanan, A. V. Tags: Immunology (including allergy), Rheumatology, Lipid disorders, Metabolic disorders Review Source Type: research

Ataxia Telangiectasia and Juvenile Idiopathic Arthritis
We report, to the best of our knowledge, the first case of a child with typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis (JIA). The patient was a 15-year-old boy with A-T who presented with noninfectious polyarthritis. A-T is a rare, autosomal recessive disorder characterized by cerebellar atrophy, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to cancer. The gene responsible for A-T is the A-T mutated (ATM) gene. Clinical manifestations of the disorder are the result of lacking ATM protein, which is involved in DNA repair, apoptosis, various checkpoints...
Source: PEDIATRICS - January 31, 2017 Category: Pediatrics Authors: Pasini, A. M., Gagro, A., Roic, G., Vrdoljak, O., Lujic, L., Zutelija-Fattorini, M. Tags: Allergy/Immunology, Immunologic Disorders Case Report Source Type: research

Recurrent Immune Thrombocytopenia After Influenza Vaccination: A Case Report
We report a child with 3 occurrences of ITP, each within 1 week of receiving the influenza trivalent inactivated vaccine. He recovered fully in-between the episodes, and no further episodes have occurred since discontinuation of seasonal influenza vaccination. To the best of our knowledge, this report is the first showing, with high probability, the influenza vaccine as a cause for ITP in a pediatric patient.
Source: PEDIATRICS - November 30, 2016 Category: Pediatrics Authors: Hamiel, U., Kventsel, I., Youngster, I. Tags: Infectious Disease, Influenza, Allergy/Immunology, Immunologic Disorders Case Report Source Type: research

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