Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott–Aldrich syndrome
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Chase, 2011, Newborn screening for SCID: three years of experience, Ann. N. Y. Acad. Sci., 1238, 99, 10.1111/j.1749-6632.2011.06241.x
Borte, 2012, Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR, Blood, 119, 2552, 10.1182/blood-2011-08-371021
Borte, 2011, Newborn screening for primary immunodeficiencies: beyond SCID and XLA, Ann. N. Y. Acad. Sci., 1246, 118, 10.1111/j.1749-6632.2011.06350.x
Kwan, 2013, Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2years, J. Allergy Clin. Immunol., 132, 140, 10.1016/j.jaci.2013.04.024
Sullivan, 1994, A multiinstitutional survey of the Wiskott–Aldrich syndrome, J. Pediatr., 125, 876, 10.1016/S0022-3476(05)82002-5
Massaad, 2013, Wiskott–Aldrich syndrome: a comprehensive review, Ann. N. Y. Acad. Sci., 1285, 26, 10.1111/nyas.12049
Stray-Pedersen, 2000, Primary immunodeficiency diseases in Norway, J. Clin. Immunol., 20, 477, 10.1023/A:1026416017763
Borte, 2013, Guidelines for newborn screening of primary immunodeficiency diseases, Curr. Opin. Hematol., 20, 48, 10.1097/MOH.0b013e32835a9130
Resource of Asian Primary Immunodeficiency Diseases (RAPID)
Chien, 2013, Incidence of severe combined immunodeficiency through newborn screening in a Chinese population, Journal of the Formosan Medical Association.
Mallott, 2013, Newborn screening for SCID identifies patients with ataxia telangiectasia, J. Clin. Immunol., 33, 540, 10.1007/s10875-012-9846-1
Speckmann, 2012, Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis, J. Allergy Clin. Immunol., 130, 991, 10.1016/j.jaci.2012.04.004
Castiello, 2014, Wiskott–Aldrich syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans, J. Autoimmun., 50, 42, 10.1016/j.jaut.2013.10.006
Wengler, 1995, High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott–Aldrich syndrome, Blood, 86, 3648, 10.1182/blood.V86.10.3648.bloodjournal86103648
Schindelhauer, 1996, Wiskott–Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product, Hum. Genet., 98, 68, 10.1007/s004390050162
Jin, 2004, Mutations of the Wiskott–Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation, Blood, 104, 4010, 10.1182/blood-2003-05-1592