Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

Current Allergy and Asthma Reports

Volumn 14, Issue 10, 2014, Pages 1-13

  Raje, Nikita ^a,b   Soden, Sarah ^a,b   Swanson, Douglas ^a,b   Ciaccio, Christina E ^a,b   Kingsmore, Stephen F ^a,b   Dinwiddie, Darrell L ^c  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

^c UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

Next generation sequencing; Primary immunodeficiency; Single nucleotide polymorphism; Single nucleotide variation; Whole exome sequencing; Whole genome sequencing

Indexed keywords

CD27 ANTIGEN; CHEMOKINE RECEPTOR CXCR4; DECTIN 1; PROTEIN KINASE C DELTA; STROMAL INTERACTION MOLECULE 1; X LINKED INHIBITOR OF APOPTOSIS;

CARD11 GENE; CD27 GENE; CLEC7A GENE; CXCR4 GENE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DOCK8 GENE; EXOME; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENOME ANALYSIS; HUMAN; IL10RA GENE; IL12RB1 GENE; IMMUNE DEFICIENCY; IMMUNOGENETICS; MALT1 GENE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PGM3 GENE; PIK3CD GENE; PIK3R1 GENE; PLDN GENE; PRKCD GENE; PSTPIP1 GENE; RECEIVER OPERATING CHARACTERISTIC; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STIM1 GENE; TTC7A GENE; XIAP GENE; ARTICLE; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; GENETIC MARKER; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; METHODOLOGY;

DIAGNOSIS, DIFFERENTIAL; EXOME; GENETIC MARKERS; GENETIC TESTING; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84957592942     PISSN: 15297322     EISSN: 15346315     Source Type: Journal    
DOI: 10.1007/s11882-014-0468-y     Document Type: Review

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