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Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review
Background and ObjectivePyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiency....
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Current understanding of ELF4 deficiency: a novel inborn error of immunity
BackgroundELF4 deficiency has been recently recognized as a novel disorder within the spectrum of inborn errors of immunity (IEIs), specifically...
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Inborn errors of immunity in adulthood
Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily...
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Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins
BackgroundProlidase deficiency (PD) is an autosomal recessive inborn multisystemic disease caused by mutations in the PEPD gene encoding the enzyme...
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Future of Therapy for Inborn Errors of Immunity
Over the past 20 years, the rapid evolution in the diagnosis and treatment of primary immunodeficiencies (PI) and the recognition of immune...
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Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFNγ immunity
BackgroundInborn errors of IL-12/IL-23-IFNγ immunity underlie Mendelian susceptibility to mycobacterial diseases (MSMD), a group of...
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Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review
BackgroundInborn errors of immunity (IEIs) are considered significant challenges for children with IEIs, their families, and their medical providers....
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ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder characterized by benign or malignant lymphoproliferation and...
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Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Immunity
This is a retrospective analysis of clinical characteristics of children with inborn errors of immunity who underwent hematopoietic stem cell...
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Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo
BackgroundIPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema....
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STAT1 overexpression triggers aplastic anemia: a pilot study unravelling novel pathogenetic insights in bone marrow failure
We identified STAT1 gain of function (GOF) in a 32-year-old female with pallor, weakness, cough, and dyspnea admitted to our Division of Medicine....
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Implications of different cell death patterns for prognosis and immunity in lung adenocarcinoma
In recent years, lung adenocarcinoma (LUAD) has become a focus of attention due to its low response to treatment, poor prognosis, and lack of...
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Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors
Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by eczematous dermatitis,...
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Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment
Activated phosphoinositide 3-kinase (PI3Kδ) Syndrome (APDS) is an inborn error of immunity (IEI) with a variable clinical presentation, characterized...
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Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation
Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses...
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De novo mutation of CYBB gene in a boy presenting as intra-abdominal infection of Burkholderia contaminans: a case report
BackgroundChronic granulomatous disease (CGD) is an inborn error of immunity. It is characterized by recurrent bacterial or fungal infections,...
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Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome
BackgroundSTAT3 hyperimmunoglobulin E syndrome (STAT3-HIES) also referred to as autosomal dominant HIES (AD-HIES) is an inborn error of immunity...
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Mendelian susceptibility to mycobacterial disease: an overview
BackgroundMycobacteria include ubiquitous species of varying virulence. However, environmental and individual-specific factors, particularly host...
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Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran
ObjectiveBronchiectasis is usually caused by recurrent bacterial infections and is characterized by irreversible dilation of the bronchi. In this...
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Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature
BackgroundBullous pemphigoid is the most common autoimmune subepidermal blistering disorder with a low incidence in childhood. Combined...
