Reviews and feature articleCombined immunodeficiency: The Middle East experience
Section snippets
Lack of epidemiologic data
Few countries in the Middle East have established national registries to determine the prevalence of common primary immunodeficiency disorder (PID) phenotypes in their populations. Establishing such registries in the Middle East, as well as other countries, is essential not only for epidemiologic data but also for demonstrating to health authorities the magnitude of the health problem and the need for strategies to care for patients with these disorders.
Awareness and education about CIDs and consanguinity complications
Consanguineous marriage resulting from
Newborn screening
Because patients with CIDs are asymptomatic at birth and early diagnosis and initiation of therapy is essential for cure, CIDs have been recognized as candidates for population-based newborn screening. The T-cell receptor recombination excision circle assay is already implemented in a few countries.7, 8 Universal newborn screening is a cost-effective means to improve the quality and duration of life for children with CIDs, and disease incidence is a critical driving force affecting the
References (18)
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles
J Allergy Clin Immunol
(2012)- et al.
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards
J Pediatr
(2009) - et al.
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)
Mol Genet Metab
(2011) - et al.
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
Cell
(2000) - et al.
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
Am J Hum Genet
(2009) - et al.
Novel genetic etiologies of severe congenital neutropenia
Curr Opin Immunol
(2009) - et al.
Primary immunodeficiency diseases: an update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
Front Immunol
(2011) - et al.
Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency
Pediatrics
(2010) - et al.
Molecular diagnosis of severe combined immunodeficiency—identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children
J Clin Immunol
(2011)
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Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.