Publications by authors named "H Artac"
Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.
Pediatr Allergy Immunol Pulmonol
December 2024
Article Synopsis
- Poikiloderma with neutropenia (PN) is a rare genetic condition resulting from mutations in a specific gene, characterized by skin changes, ongoing low neutrophil levels, and recurrent respiratory infections.
- A case study of a 15-month-old boy revealed symptoms like skin hyperpigmentation, growth issues, and respiratory infections, with notable physical traits such as facial dysmorphism and widespread poikiloderma.
- Laboratory tests indicated mild neutropenia and low immunoglobulin levels, leading to treatment with immunoglobulin replacement and antibiotics, highlighting the importance of monitoring immune function in patients with recurrent infections.
Article Synopsis
- The study evaluated a method to test for beta-lactam antibiotic (BLA) allergies in children with a history of low-risk non-immediate reactions (NIR) using a direct single therapeutic dose challenge followed by a prolonged drug provocation test (DPT).
- A total of 109 children participated, with most reporting a reaction to amoxicillin-clavulanic acid; the most common symptom observed was maculopapular exanthema.
- Results indicated that an initial single-dose DPT was safe and effective, with only a small percentage experiencing minor reactions, suggesting this approach can help identify true allergies in children.
Article Synopsis
- The study focuses on long-term follow-up of 18 pediatric and adult patients with hypomorphic DCLRE1C mutations diagnosed with leaky severe combined immunodeficiency (SCID).
- Common clinical manifestations included recurrent infections, skin issues, autoimmune diseases, and malignancy, with a significant number of patients showing low immunoglobulin levels and T/B-cell lymphopenia.
- Findings suggested a dominant Th1 immune response, with elevated IFN-γ and T cells contributing to chronic inflammation and autoimmunity, emphasizing the need for ongoing patient monitoring post-hematopoietic stem cell transplantation (HSCT).
Purpose Of Review: The rate of inborn errors of immunity (IEI) in the Middle East and North Africa (MENA) region is generally higher than in other parts of the world. IEI patients in MENA exhibit more severe disease phenotypes. One of the most important reasons for this is delayed diagnosis.
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