Burden of copy number variation in common variable immunodeficiency

Clinical and Experimental Immunology

Volumn 177, Issue 1, 2014, Pages 269-271

  Keller, M ^a   Glessner, J ^a   Resnick, E ^b   Perez, E ^c   Chapel, H ^e   Lucas, M ^e   Sullivan, K E ^a   Cunningham Rundles, C ^b   Orange, J S ^d   Hakonarson, H ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Copy number variation; CVID; Immunodeficiency; Immunoglobulin

Indexed keywords

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; CANCER INCIDENCE; CHILD; CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; COPY NUMBER VARIATION; GENETIC ASSOCIATION; GENOMIC INSTABILITY; HEMATOLOGIC MALIGNANCY; HUMAN; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RELAPSE;

COPY NUMBER VARIATION; CVID; IMMUNODEFICIENCY; IMMUNOGLOBULIN;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; COMMON VARIABLE IMMUNODEFICIENCY; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; HUMANS; INCIDENCE; LYMPHOMA; MALE; MIDDLE AGED; UNITED STATES; YOUNG ADULT;

EID: 84904242832     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/cei.12255     Document Type: Article

References (7)

1. Yong PF, Thaventhiran JE, Grimbacher B. 'A rose is a rose is a rose', but CVID is not CVID common variable immune deficiency (CVID), what do we know in 2011? Adv Immunol 2011; 111:47-107.
2. Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q etal. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet 2012; 90:986-1001.
3. Orange JS, Glessner JT, Resnick E etal. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol 2011; 127:1360-7 e1366.
4. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012; 119:1650-1657.
5. Offer SM, Pan-Hammarstrom Q, Hammarstrom L, Harris RS. Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. PLOS One 2010; 5:e12260.
6. Aghamohammadi A, Moin M, Kouhi A etal. Chromosomal radiosensitivity in patients with common variable immunodeficiency. Immunobiology 2008; 213:447-454.
7. Palanduz S, Palanduz A, Yalcin I etal. In vitro chromosomal radiosensitivity in common variable immune deficiency. Clin Immunol Immunopathol 1998; 86:180-182.