Publications by authors named "Ashwag A Alsaidalani"
Article Synopsis
- Autosomal dominant hyper IgE syndrome is a rare immune disorder affecting about one in a million people, leading to various symptoms due to its impact on multiple body systems.
- A 5-year-old boy from the Middle East was hospitalized with severe abdominal issues and kidney problems, prompting genetic testing that identified a specific variant in the STAT3 gene.
- After starting prophylactic antibiotics, the boy made a full recovery, highlighting that while deep infections are rare in this syndrome, skin and lung infections are more common and need immediate treatment.
Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency.
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