Effects of family history and consanguinity in primary immunodeficiency diseases in children in Qatar

Abstract

Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PIDConclusions: This study indicates that family history is common in children with PID and helpful in reducing the delay age. Consanguinity among families of affected children is also high (higher than healthy population). Paternal parallel cousin marriages are the most common type of consanguinity. For a practicing physician, family history is a simple and useful tool when suspecting PID in children. Primary prevention of PID in Middle East communities should consider consanguinity reduction through public awareness and education and premarital counseling programs.

The association between parental consanguinity and primary immunodeficiency diseases: A systematic review and meta‐analysis

“…The most common diagnostic criteria were based on The European Society for Immunodeficiencies (ESID) and The International Union of Immunological Societies (IUIS) .…”

Clinico-Radiological Correlation in Children with Ataxia Telangiectasia in Qatar

“…In 2014, the total of Qatar population reached 2,123,160 of whom 302,313 are children younger than 14 years [28]. The frequency of AT in Qatar is estimated to be 1 per 16,796 live births, still higher than reported in other regions of the world (in 40,000 to 100,000 people worldwide) [29], and due to high consanguinity rate among primary immunodeficiency diseases in Qatar [30]. Although our study revealed a correlation between clinical severity scales and cerebellar atrophy scores, a larger sample size most likely would have shown a statistical significance.…”

The Value of Family History in Diagnosing Primary Immunodeficiency Disorders

“…PIDs are acquired by different modes of inheritance [ 4 ]. Communities with a common practice of consanguinity, such as Iran, Saudi Arabia, Turkey, Morocco, Egypt, Kuwait, and Oman, have a high rate of PIDs [ 3 ]. In addition, autosomal recessive inheritance is not the only culprit in consanguineous marriage, but multifactorial factors play a role as well [ 5 ].…”

“…Early diagnosis of PID is crucial because often lifesaving interventions can be provided to decrease the rate of morbidity and mortality [ 2 ]. A major proportion of affected infants and children are offspring of consanguineous marriage; in addition, family medical history is very common in PID and it is an essential component in the diagnosis [ 3 ].…”