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Iman Owliaee,1 Ali Teimoori,1 Mohammad Shoushtari,2 Ali Shojaeian3 1Department of Medical Virology, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran; 2Department of Virology, Pasteur Institute o...

Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, ...

OBJECTIVE: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of chronic renal disease in childhood. Abnormal intrauterine conditions as well as genetic disorders play role in CAKUT develo...

Nephrotic syndrome increases the tendency to thromboembolic complications in both adults and children. Changes in the plasma concentrations of many proteins concerned with regulation of clotting and fibrinolytic systems,...

Abstract Background Spinocerebellar ataxias comprise a group of neurodegenerative disorders characterized by progressive cerebellar ataxia with clinical and genetic heterogeneity. Autosomal recessive spinocerebellar atax...

McArdle Disease (Glycogen Storage Disorder Type V) is one of the most common inherited genetic alterations known to increase the risk of rhabdomyolysis. It is characterized by glycogen phosphorilase deficiency and is gen...

L-Ergothioneine （L-EGT） is a histidine-derived compound widely present in edible mushrooms， certain legumes， animal organ meats， which must be obtained through dietary intake as it can’t be synthesized by hum...

BackgroundAnkylosing spondylitis (AS) is an autoimmune disease. Its exact cause remains unclear. It is generally believed to result from a combination of genetic and environmental factors, as well as immune disorders. Ho...

Hemophilia B is an X-linked recessive bleeding disorder caused by deficiency or dysfunction of factor IX. It typically presents with spontaneous or trauma-induced bleeding, hemarthrosis, and soft tissue hematomas. We rep...

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...

Abstract Background SPTBN1 encodes βII-spectrin, a cytoskeletal protein essential for neuronal structure and function. Pathogenic variants in this gene cause a neurodevelopmental disorder known as DDISBA (Developmental ...

The mind has puzzled humans for centuries, and its disorders, such as psychoses, have caused tremendous difficulties. However, relatively recent biotechnological breakthroughs, such as DNA technology and neuroimaging, ha...

Abstract Background Progressive retinal atrophy (PRA) was diagnosed in four related male English Cocker Spaniels (ECS) between the ages of 3 and 4 years. All affected dogs were born to clinically unaffected parents that ...

Interferon regulatory factor-2-binding protein-2 (IRF2BP2) is a transcriptional regulator affecting diverse cellular functions, including cell differentiation and apoptosis. It plays an important role in lymphocyte and m...

Morphological phenotyping of genetically engineered or experimentally challenged mice is the first step in researching the causality of congenital malformations. Especially for spatially complex structures like the inner...

Duchenne muscular dystrophy (DMD) is one of the most frequent and severe presentation of pediatric muscular dystrophies. There is great variability in the progression of the disease between DMD patients, even affected ma...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

IntroductionOSMR encodes oncostatin M receptor beta (OSMRβ), a cell surface receptor of the gp130 family that binds OSM and IL-31, and is highly expressed on fibroblasts. The gp130 family comprises signaling proteins, m...

Autism spectrum disorders (ASDs) are neuropsychiatric diseases characterized by impaired social interaction, communication deficits, and repetitive and stereotyped behaviors. ASD etiology is unknown, and both genetic and...

Background and AimsCHARGE syndrome (OMIM#214800) is a rare hereditary monogenic disease with an autosomal-dominant pattern of inheritance. It is characterized by multiple congenital malformations and is caused by pathoge...

Abstract Objective Obesity has become one of the most common disorders in the world and causes a significant public health challenge. Genome-wide association studies (GWAS) have identified variants within the FTO gene as...

IntroductionThe MIRACLE Task Force is a multidisciplinary, multi-institutional work group comprising immunology, genetics, obstetrics/gynecology, and maternal fetal medicine providers dedicated to understanding reproduct...

Background/objectivesNeurofibromatosis type 1 (NF1) is a common genetic disorder often accompanied by cognitive, behavioral, and neurodevelopmental disorders. While tumor-related manifestations are well-documented, less ...