Publications by authors named "Shafiq Ur Rehman Naseem"

Article Synopsis
  • Early diagnosis of inborn errors of immunity (IEIs) is essential due to high risks of illness and death; this study focused on Omani patients to identify genetic causes and survival rates of IEIs.
  • Over 17 years, 185 Omani patients were evaluated, revealing that most had genetic diagnoses related to immunity problems, with common symptoms like respiratory infections and developmental issues.
  • The study found that a significant percentage of patients had autosomal recessive genetic defects, and the overall survival rate was 75.1%, indicating potential for improved management and outcomes through earlier detection.*
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Objectives: Anaphylaxis is an acute and potentially fatal allergic reaction. No studies have yet been conducted to evaluate the spectrum of anaphylactic reactions among Omani patients. As such, this study aimed to describe the clinical features, causes, investigation, and management of anaphylaxis among patients presenting to a tertiary care center in Oman.

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The coat protein I (COPI) complex mediates retrograde trafficking from the Golgi to the endoplasmic reticulum (ER). Five siblings with persistent bacterial and viral infections and defective humoral and cellular immunity had a homozygous p.K652E mutation in the γ1 subunit of COPI (γ1-COP).

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Objectives: This study aimed to evaluate the relationship between food allergen sensitisation patterns and allergic manifestations in Omani patients and highlight the importance of specific immunoglobulin E (IgE) testing.

Methods: This retrospective study included all patients referred due to allergic manifestations to the Sultan Qaboos University Hospital (SQUH), Muscat, Oman, from November 2012 to November 2016. Specific IgE blood testing was performed to determine sensitisation to common foods known to cause allergic reactions.

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Purpose: Primary immunodeficiency (PID) diseases are rare, complex medical disorders that often are overlooked in clinical settings. There are emerging reports of PID from Middle Eastern populations. This study describes the features of PID patients in a tertiary care setting in Oman and compares them with regional and worldwide reports.

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ORAI1 is the pore-forming subunit of the calcium release-activated calcium channel responsible for calcium influx into cells triggered by endoplasmic reticulum store depletion. We report here a patient with severe combined immunodeficiency and absent store-operated calcium entry due to a novel mutation in ORAI1 that results in the expression of a C-terminally truncated protein that abolishes ORAI1 binding to STIM1.

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