Publications by authors named "B Garty"
Background: Hyper-IgE syndrome (HIES) constitutes a group of rare primary immunodeficiency disorders. The diagnosis relies on the National Institutes of Health (NIH) scoring system, incorporating clinical and laboratory data. Scores greater than or equal to 15 raise a strong suspicion of the disease.
View Article and Find Full Text PDFBackground: Autosomal dominant hyper-IgE syndrome (AD-HIES) caused by dominant negative (DN) variants in the signal transducer and activator of transcription 3 gene () is characterized by recurrent Staphylococcal abscesses, severe eczema, chronic mucocutaneous candidiasis (CMC), and non-immunological facial and skeletal features.
Objectives: To describe our experience with the diagnosis and treatment of adult patients with AD-HIES induced by DN- variants.
Methods: The medical records of adult patients (>18 years) treated at the Allergy and Clinical Immunology Clinic of Hadassah Medical Center, Jerusalem, Israel, were retrospectively analyzed.
Human MD2 deficiency-an inborn error of immunity with pleiotropic features.
J Allergy Clin Immunol
March 2023
Article Synopsis
- Toll-like receptors (TLRs), especially TLR4 with its co-receptor MD2, play a crucial role in recognizing microbes and triggering the body’s immune response against infections, particularly from gram-negative bacteria.
- A patient's genetic analysis revealed a mutation in the LY96 gene (which encodes for MD2) that led to significant immune system dysfunction, evidenced by impaired signaling and cytokine production in response to bacterial challenges.
- Findings suggest that MD2 deficiency can lead to weakened immune responses to gram-negative bacteria, highlighting the need for further understanding of its clinical implications and potential therapeutic targets in treating inflammatory diseases.
Introduction: Hyper IgE syndromes (HIES) are a group of rare primary immunodeficiency characterized by high levels of serum IgE, cold abscesses, pulmonary infections, and eczema. ZNF341 deficiency was described in 2018 in 11 patients clinically diagnosed previously with HIES. Eight of those patients, all offspring of consanguineous couples, are from three families who live in a Muslim village in Israel which has approximately 15,000 residents.
View Article and Find Full Text PDFBackground: Traditionally, most children diagnosed with Henoch-Schonlein Purpura (HSP) were hospitalized. This policy gradually changed towards selective hospitalization, yet there are still no criteria for admitting pediatric patients with HSP.
Objectives: To examine the clinical features and criteria for hospitalization of pediatric patients with HSP.