Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Journal of Allergy and Clinical Immunology

Volumn 133, Issue 2, 2014, Pages

  Nijman, Isaac J ^a   Van Montfrans, Joris M ^a   Hoogstraat, Marlous ^a   Boes, Marianne L ^a   Van De Corput, Lisette ^a   Renner, Ellen D ^b   Van Zon, Patrick ^a   Van Lieshout, Stef ^a   Elferink, Martin G ^a   Van Der Burg, Mirjam ^c   Vermont, Clementien L ^d   Van Der Zwaag, Bert ^a   Janson, Esther ^a   Cuppen, Edwin ^a   Ploos Van Amstel, Johannes K ^a   Van Gijn, Marielle E ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

diagnosis; genetics; next generation sequencing; Primary immunodeficiency

Indexed keywords

AGRANULOCYTOSIS; ARTICLE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEMOPHAGOCYTIC SYNDROME; HUMAN; IMMUNE DEFICIENCY; MICROARRAY ANALYSIS; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; X LINKED LYMPHOPROLIFERATIVE LIKE DISEASE;

ALPS; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CID; COMBINED IMMUNODEFICIENCY; DIAGNOSIS; GENETICS; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HLH; INTERNATIONAL UNION OF IMMUNODEFICIENCY SOCIETIES; IUIS; NEXT-GENERATION SEQUENCING; NGS; PID; PRIMARY IMMUNODEFICIENCY; SINGLE NUCLEOTIDE VARIANT; SNV;

ADOLESCENT; ADULT; CHILD; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84895064425     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.08.032     Document Type: Article

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