The Kuwait National Primary Immunodeficiency Registry 2004-2018

Area of Science:

• Immunology
• Genetics
• Public Health

Background:

• Primary immunodeficiency (PID) represents a diverse group of genetic disorders affecting the immune system.
• Understanding the epidemiology and clinical characteristics of PID is essential for effective public health strategies.
• The Kuwait National Primary Immunodeficiency Registry was established to track PID cases.

Purpose of the Study:

• To report the findings from the Kuwait National Primary Immunodeficiency Registry spanning from 2004 to 2018.
• To analyze the prevalence, incidence, and clinical spectrum of PID in Kuwait.

Main Methods:

• Prospective follow-up of 314 PID patients from January 2004 to December 2018.
• Data collection included sociodemographic information, diagnosis, clinical presentation, laboratory tests, and treatment modalities.
• Genetic testing was performed in 69% of patients.

Main Results:

• Kuwaiti nationals constituted 91.4% of the 314 registered PID patients.
• The prevalence of PID among Kuwaitis was 20.27/100,000, with a cumulative incidence of 24.96/100,000.
• Severe forms of PID were prevalent, with 86% of patients experiencing symptom onset before age 5; 78% had parental consanguinity, and 50% had a family history of PID. Genetic defects were identified in 46 genes, predominantly autosomal recessive.
• Mortality rate was 26%, with a mean age of death of 25 months.

Conclusions:

• Primary immunodeficiency is not infrequent in Kuwait, exhibiting the highest reported prevalence globally, with a notable proportion of severe forms.
• Delayed diagnosis, with a mean delay of 27 months, contributes to significant morbidity and mortality.
• Implementing collaborative efforts, including newborn screening, is recommended for earlier diagnosis and improved patient quality of life.