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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and
A Aghamohammadi1, H Abolhassani, K Moazzami
1Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. aghamohammadi@sina.tums.ac.ir
Parental consanguinity and early disease onset in Common Variable Immunodeficiency (CVID) patients indicate a subgroup with increased complications and poorer prognosis. This highlights the need for targeted medical attention for these CVID individuals.
Area of Science:
- Immunology
- Genetics
- Clinical Medicine
Background:
- Common Variable Immunodeficiency (CVID) is a complex disorder with diverse clinical and immunological presentations.
- These variations suggest the potential for classifying CVID into distinct phenotypes.
Purpose of the Study:
- To differentiate clinical phenotypes in Iranian CVID patients.
- To compare complications and prognosis across CVID subgroups.
Main Methods:
- Classified 93 CVID patients into 5 phenotypes: infections, polyclonal lymphocytic infiltration, autoimmunity, malignancy, and enteropathy.
- Categorized patients by age of diagnosis (≤13 years) and parental consanguinity.
Main Results:
- CVID children with parental consanguinity were most frequent (51%) and showed associations with polyclonal lymphocytic infiltration and enteropathy.
- This group had a higher mortality rate (P=.014).
- High IgM levels correlated with autoimmunity development; polyclonal lymphocytic infiltration phenotype significantly increased mortality risk (OR=5.3).
Conclusions:
- Parental consanguinity and early disease onset identify a CVID subgroup requiring heightened medical care.
- This subgroup faces more complications and a poorer prognosis.
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