Child ; Humans ; Immune System Diseases ; genetics ; Immunogenetics ; Pediatrics

A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the
Child, Preschool ; Fever ; Heterozygote ; Humans ; Immune System Diseases/genetics* ; Male ; Mutation ; STAT3 Transcription Factor/genetics* ; Syndrome

OBJECTIVE: To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. METHODS: Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature. RESULTS: The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Laboratory testing showed elevated liver enzymes and total IgE, decreased albumin and electrolyte imbalance. Gastrointestinal endoscopy revealed erosion and granules in the duodenum, and edema in the terminal ileum and colon. Biopsies showed villous atrophy in the duodenum and terminal ileum. Genetic testing revealed that the patient has carried a missense c.1087A>G (p.I363V) variant in the exon 10 of the FOXP3 gene. He was treated with enteral and parenteral nutrition, anti infection and Sirolimus, and was waiting for hemopoietic stem cell transplantation. CONCLUSION Although IPEX syndrome usually occur during infancy, it should not be ruled out solely based on the age, and its presentation can be variable. For male children with refractory diarrhea, autoimmune disorder and growth retardation, the diagnosis should be suspected and confirmed by genetic testing.
Child, Preschool ; Diabetes Mellitus, Type 1/genetics* ; Diarrhea/genetics* ; Forkhead Transcription Factors/genetics* ; Genetic Diseases, X-Linked/genetics* ; Genetic Testing ; Humans ; Immune System Diseases/genetics* ; Male ; Mutation ; Polyendocrinopathies, Autoimmune/genetics*

Child ; Child, Preschool ; Female ; Forkhead Transcription Factors ; genetics ; metabolism ; Humans ; Immune System Diseases ; immunology ; Male ; Purpura, Thrombocytopenic, Idiopathic ; genetics ; immunology ; metabolism ; T-Lymphocytes, Regulatory ; immunology

Atopic dermatitis (AD) is the most common chronic skin disease of young children and poses a significant global health problem. More than half of children with AD develop asthma and allergies, typically in the first few years of their life. AD is a paradigmatically complex disease with a number of contributing factors, which include genetics, the environment, infection, and skin barrier dysfunction. The diverse clinical phenotypes of AD reflect the genetic and epigenetic background affecting the innate and adaptive immune system, as well as neuro-immunological and environmental factors including microbiologic signals. The gold standard for the management of AD is efficient, ideally proactive, anti-inflammatory treatment combined with strategies aimed at restoring the epidermal barrier. This includes avoidance of trigger factors, skin barrier repair and maintenance, and the use of anti-inflammatory agents. Basic skin care is also considered an important pillar in the management of AD, with functional emollients beginning to appear on the market. In addition, a number of new candidate molecules for the treatment of AD are currently under investigation in clinical trials. Last but not least, treatment compliance remains a key factor for the successful management of AD. Due to its complex clinical phenotype, the future management of AD should be more individualized, addressing personal clinical and genetic/biologic.
Anti-Inflammatory Agents ; Asthma ; Child ; Compliance ; Dermatitis, Atopic* ; Emollients ; Epigenomics ; Genetics ; Humans ; Hypersensitivity ; Immune System ; Phenotype ; Skin ; Skin Care ; Skin Diseases

Increasing evidence suggests that multiple genes in the human leukocyte antigen(HLA) regions play an important role in development of cancers and immunity disorders. However, the biological mechanisms of the HLA associations are not well understood. We recently conducted a survey of all genome-wide association studies (GWAS) with significant findings in the HLA regions and concluded that diseases such as cancer and immune disorders are more likely to be associated with genetic variants located in the HLA regions than other diseases. This finding is suggestive for testing a hypothesis of a common etiology of infectious tumors and other immunity diseases.
Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; HLA Antigens ; genetics ; metabolism ; Herpesvirus 4, Human ; isolation & purification ; Humans ; Immune System Diseases ; genetics ; immunology ; virology ; Lymphoma, Non-Hodgkin ; genetics ; immunology ; virology ; Nasopharyngeal Neoplasms ; genetics ; immunology ; virology

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.
Ataxia ; Bartter Syndrome ; Brugada Syndrome ; Cardiovascular System ; Channelopathies* ; Diabetes Insipidus, Nephrogenic ; Diabetes Mellitus ; Endocrine System ; Epilepsy, Generalized ; Genetics ; Hypoglycemia ; Hypokalemic Periodic Paralysis ; Immune System ; Ion Channels ; Isaacs Syndrome ; Long QT Syndrome ; Membranes ; Migraine with Aura ; Myasthenia Gravis ; Nervous System ; Neuromyelitis Optica ; Organelles ; Polycystic Kidney Diseases ; Respiratory System ; Seizures, Febrile