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The Spectrum Of Primary Immunodeficiencies At A Tertiary Care Hospital In Pakistan, Sonia Qureshi, Fatima Mir, Samina Junejo, Khalid Saleem, Samreen Zaidi, Abdullah B. Naveed, Khalil Ahmad, Farah Naz Qamar
The Spectrum Of Primary Immunodeficiencies At A Tertiary Care Hospital In Pakistan, Sonia Qureshi, Fatima Mir, Samina Junejo, Khalid Saleem, Samreen Zaidi, Abdullah B. Naveed, Khalil Ahmad, Farah Naz Qamar
Department of Paediatrics and Child Health
Background: Primary Immunodeficiency Disorders (PIDs) are well-known disorders in the West. but the recognition and diagnosis of these disorders is challenging in developing countries. We present the spectrum of PIDs seen at a tertiary care center in Pakistan, identified using clinical case definitions and molecular methods.
Methods: A retrospective chart review of children suspected to have PID was conducted at the Aga Khan University Hospital (AKUH) Karachi, Pakistan from 2010 to 2016. Data on demographics, clinical features, family history of consanguinity, sibling death, details of laboratory workup done for PID and molecular tests targeted panel next generation sequencing (NGS) or …