Publications by authors named "Atteaya Zaman"
Article Synopsis
- Inborn errors of immunity (IEI) are genetic problems that hurt the immune system, leading to various health issues, and are becoming more common in Pakistan, especially in families that marry within themselves.
- This study specifically looks at two serious types of IEI: severe combined immunodeficiency (SCID), which causes dangerous health problems right after birth, and leukocyte adhesion deficiency type 1 (LAD1), which makes people more prone to infections.
- Researchers used special tests to study the immune systems of six families and found several genetic changes linked to these immune disorders; this could help doctors diagnose and treat patients better in the future.
Background: Severe Combined Immunodeficiency (SCID) is an autosomal recessive inborn error of immunity (IEI) characterized by recurrent chest and gastrointestinal (GI) infections and in some cases associated with life-threatening disorders.
Methodology And Results: This current study aims to unwind the molecular etiology of SCID and also extended the patients' phenotype associated with identified particular variants. Herein, we present 06 disease-causing variants identified in 07 SCID-patients in three different SCID related genes.