Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Schlechter, Nikola ; Glanzmann, Brigitte ; Hoal, Eileen Garner ; Schoeman, Mardelle ; Petersen, Britt-Sabina ; Franke, Andre ; Lau, Yu-Lung ; Urban, Michael ; Van Helden, Paul David ; Esser, Maria Esser ; Moller, Marlo ; Kinnear, Craig (2017-11)

Article

Primary immunodeficiency disorders (PIDs) render patients vulnerable to infection with a wide range of microorganisms and thus provide good in vivo models for the assessment of immune responses during infectious challenges. Priming of the immune system, especially in infancy, depends on different environmental exposures and medical practices. This may determine the timing and phenotype of clinical appearance of immune deficits as exemplified with early exposure to Bacillus Calmette-Guérin (BCG) vaccination and dissemination in combined immunodeficiencies. Varied phenotype expression poses a challenge to identification of the putative immune deficit. Without the availability of genomic diagnosis and data analysis resources and with limited capacity for functional definition of immune pathways, it is difficult to establish a definitive diagnosis and to decide on appropriate treatment.

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