LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Siobhan O Burns; Helen L Zenner; Vincent Plagnol; James Curtis; Kin Mok; Michael Eisenhut; Dinakantha Kumararatne; Rainer Doffinger; Adrian J Thrasher; Sergey Nejentsev

doi:10.1016/j.jaci.2012.07.035

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Siobhan O Burns, Helen L Zenner, Vincent Plagnol, James Curtis, Kin Mok, Michael Eisenhut, Dinakantha Kumararatne, Rainer Doffinger, Adrian J Thrasher, Sergey Nejentsev

Molecular cell biology and Immunology

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1428-32
Number of pages	5
Journal	Journal of Allergy and Clinical Immunology
Volume	130
Issue number	6
DOIs	https://doi.org/10.1016/j.jaci.2012.07.035
Publication status	Published - Dec 2012

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10.1016/j.jaci.2012.07.035

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Burns, S. O., Zenner, H. L., Plagnol, V., Curtis, J., Mok, K., Eisenhut, M., ... Nejentsev, S. (2012). LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. Journal of Allergy and Clinical Immunology, 130(6), 1428-32. https://doi.org/10.1016/j.jaci.2012.07.035

@article{92481d3989d74b298628dca108fe1788,

title = "LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia",

keywords = "Adaptor Proteins, Signal Transducing/genetics, Agammaglobulinemia/complications, Anemia, Hemolytic/complications, Autoimmune Diseases/complications, Cell Line, Transformed, Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Erythema Nodosum/complications, Exome/genetics, Female, Homozygote, Humans, Sequence Deletion/genetics",

author = "Burns, {Siobhan O} and Zenner, {Helen L} and Vincent Plagnol and James Curtis and Kin Mok and Michael Eisenhut and Dinakantha Kumararatne and Rainer Doffinger and Thrasher, {Adrian J} and Sergey Nejentsev",

year = "2012",

month = "12",

doi = "10.1016/j.jaci.2012.07.035",

language = "English",

volume = "130",

pages = "1428--32",

journal = "Journal of Allergy and Clinical Immunology",

issn = "0091-6749",

publisher = "Mosby Inc.",

number = "6",

}

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. / Burns, Siobhan O; Zenner, Helen L; Plagnol, Vincent; Curtis, James; Mok, Kin; Eisenhut, Michael; Kumararatne, Dinakantha; Doffinger, Rainer; Thrasher, Adrian J; Nejentsev, Sergey.

In: Journal of Allergy and Clinical Immunology, Vol. 130, No. 6, 12.2012, p. 1428-32.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

AU - Burns, Siobhan O

AU - Zenner, Helen L

AU - Plagnol, Vincent

AU - Curtis, James

AU - Mok, Kin

AU - Eisenhut, Michael

AU - Kumararatne, Dinakantha

AU - Doffinger, Rainer

AU - Thrasher, Adrian J

AU - Nejentsev, Sergey

PY - 2012/12

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KW - Adaptor Proteins, Signal Transducing/genetics

KW - Agammaglobulinemia/complications

KW - Anemia, Hemolytic/complications

KW - Autoimmune Diseases/complications

KW - Cell Line, Transformed

KW - Child

KW - Child, Preschool

KW - Consanguinity

KW - DNA Mutational Analysis

KW - Erythema Nodosum/complications

KW - Exome/genetics

KW - Female

KW - Homozygote

KW - Humans

KW - Sequence Deletion/genetics

U2 - 10.1016/j.jaci.2012.07.035

DO - 10.1016/j.jaci.2012.07.035

M3 - Article

C2 - 22981790

VL - 130

SP - 1428

EP - 1432

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

SN - 0091-6749

IS - 6

ER -