A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

Journal of Allergy and Clinical Immunology

Volumn 141, Issue 1, 2018, Pages 432-435.e7

  Bogaert, Delfien J ^a,b   Kuehn, Hye Sun ^c   Bonroy, Carolien ^a   Calvo, Katherine R ^c   Dehoorne, Joke ^a   Vanlander, Arnaud V ^a   De Bruyne, Marieke ^a   Cytlak, Urszula ^d,e   Bigley, Venetia ^d,e   De Baets, Frans ^a   De Baere, Elfride ^a   Rosenzweig, Sergio D ^c   Haerynck, Filomeen ^a   Dullaers, Melissa ^a,b,f  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f GHENT UNIVERSITY   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CHOLINERGIC RECEPTOR; COMPLEMENTARY DNA; IKAROS FAMILY ZINC FINGER PROTEIN 1; IKAROS TRANSCRIPTION FACTOR; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PNEUMOCOCCUS VACCINE; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; BIOLOGICAL MARKER; IKZF1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; B LYMPHOCYTE; BACTERIAL INFECTION; BONE MARROW BIOPSY; CASE REPORT; CELL LINEAGE; CELL MATURATION; CHILD; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GERMLINE MUTATION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPATHOGENESIS; JUVENILE; LUNG INFECTION; LYMPHOCYTOPENIA; MOLECULAR DIAGNOSIS; MONOCYCLIC SYSTEMIC ONSET JUVENILE IDIOPATHIC ARTHRITIS; MYASTHENIA GRAVIS; NONSENSE MEDIATED MRNA DECAY; PNEUMOCOCCAL INFECTION; PRE B LYMPHOCYTE; PRIORITY JOURNAL; REACTIVE ARTHRITIS; RECURRENT INFECTION; SCHOOL CHILD; SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS; T LYMPHOCYTE SUBPOPULATION; VACCINATION; WHOLE EXOME SEQUENCING; ZINC FINGER MOTIF; ASYMPTOMATIC DISEASE; CELL DIFFERENTIATION; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; IMMUNOPHENOTYPING; MALE; METABOLISM; MUTATION; PEDIGREE; PROCEDURES;

ADOLESCENT; ASYMPTOMATIC DISEASES; B-LYMPHOCYTES; BIOMARKERS; CELL DIFFERENTIATION; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HUMANS; IKAROS TRANSCRIPTION FACTOR; IMMUNOPHENOTYPING; MALE; MUTATION; PEDIGREE; WHOLE EXOME SEQUENCING;

EID: 85031427779     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2017.08.019     Document Type: Article

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