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Comment
. 2012 Apr 12;119(15):3371-2.
doi: 10.1182/blood-2012-02-410399.

A loss of naivete

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Free article
Comment

A loss of naivete

Kimberly Risma. Blood. .
Free article

Abstract

Monogenic disorders leading to primary immunodeficiency have fascinated scientists and clinicians alike by their capacity to reveal the complexities of intracellular signaling pathways. Two articles in this issue of Blood by Abdollahpour et al and Nehme et al illustrate this point vividly, describing for the first time the clinical and immunologic phenotype associated with genetic mutations in STK4, manifested largely by a loss of T-cell naiveté.

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  • MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.
    Nehme NT, Schmid JP, Debeurme F, André-Schmutz I, Lim A, Nitschke P, Rieux-Laucat F, Lutz P, Picard C, Mahlaoui N, Fischer A, de Saint Basile G. Nehme NT, et al. Blood. 2012 Apr 12;119(15):3458-68. doi: 10.1182/blood-2011-09-378364. Epub 2011 Dec 14. Blood. 2012. PMID: 22174160 Free PMC article.
  • The phenotype of human STK4 deficiency.
    Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C. Abdollahpour H, et al. Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158. Epub 2012 Jan 31. Blood. 2012. PMID: 22294732 Free PMC article.

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