A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.

IRF4 International Consortium, Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY

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DOI: 10.1126/sciimmunol.ade7953
Published: 2023 Jan 20
Container: Science immunology
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1126/sciimmunol.ade7953,
  title = {A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.},
  author = {IRF4 International Consortium and Fornes O and Jia A and Kuehn HS and Min Q and Pannicke U and Schleussner N and Thouenon R and Yu Z and de Los Angeles Astbury M and Biggs CM and Galicchio M and Garcia-Campos JA and Gismondi S and Gonzalez Villarreal G and Hildebrand KJ and Hönig M and Hou J and Moshous D and Pittaluga S and Qian X and Rozmus J and Schulz AS and Staines-Boone AT and Sun B and Sun J and Uwe S and Venegas-Montoya E and Wang W and Wang X and Ying W and Zhai X and Zhou Q and Akalin A and André I and Barth TFE and Baumann B and Brüstle A and Burgio G and Bustamante JC and Casanova JL and Casarotto MG and Cavazzana M and Chentout L and Cockburn IA and Costanza M and Cui C and Daumke O and Del Bel KL and Eibel H and Feng X and Franke V and Gebhardt JCM and Götz A and Grunwald S and Hoareau B and Hughes TR and Jacobsen EM and Janz M and Jolma A and Lagresle-Peyrou C and Lai N and Li Y and Lin S and Lu HY and Lugo-Reyes SO and Meng X and Möller P and Moreno-Corona N and Niemela JE and Novakovsky G and Perez-Caraballo JJ and Picard C and Poggi L and Puig-Lombardi ME and Randall KL and Reisser A and Schmitt Y and Seneviratne S and Sharma M and Stoddard J and Sundararaj S and Sutton H and Tran LQ and Wang Y and Wasserman WW and Wen Z and Winkler W and Xiong E and Yang AWH and Yu M and Zhang L and Zhang H and Zhao Q and Zhen X and Enders A and Kracker S and Martinez-Barricarte R and Mathas S and Rosenzweig SD and Schwarz K and Turvey SE and Wang JY},
  year = {2023},
  journal = {Science immunology},
  doi = {10.1126/sciimmunol.ade7953},
  url = {https://doi.org/10.1126/sciimmunol.ade7953}
}

RIS

TY  - JOUR
TI  - A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
AU  - IRF4 International Consortium
AU  - Fornes O
AU  - Jia A
AU  - Kuehn HS
AU  - Min Q
AU  - Pannicke U
AU  - Schleussner N
AU  - Thouenon R
AU  - Yu Z
AU  - de Los Angeles Astbury M
AU  - Biggs CM
AU  - Galicchio M
AU  - Garcia-Campos JA
AU  - Gismondi S
AU  - Gonzalez Villarreal G
AU  - Hildebrand KJ
AU  - Hönig M
AU  - Hou J
AU  - Moshous D
AU  - Pittaluga S
AU  - Qian X
AU  - Rozmus J
AU  - Schulz AS
AU  - Staines-Boone AT
AU  - Sun B
AU  - Sun J
AU  - Uwe S
AU  - Venegas-Montoya E
AU  - Wang W
AU  - Wang X
AU  - Ying W
AU  - Zhai X
AU  - Zhou Q
AU  - Akalin A
AU  - André I
AU  - Barth TFE
AU  - Baumann B
AU  - Brüstle A
AU  - Burgio G
AU  - Bustamante JC
AU  - Casanova JL
AU  - Casarotto MG
AU  - Cavazzana M
AU  - Chentout L
AU  - Cockburn IA
AU  - Costanza M
AU  - Cui C
AU  - Daumke O
AU  - Del Bel KL
AU  - Eibel H
AU  - Feng X
AU  - Franke V
AU  - Gebhardt JCM
AU  - Götz A
AU  - Grunwald S
AU  - Hoareau B
AU  - Hughes TR
AU  - Jacobsen EM
AU  - Janz M
AU  - Jolma A
AU  - Lagresle-Peyrou C
AU  - Lai N
AU  - Li Y
AU  - Lin S
AU  - Lu HY
AU  - Lugo-Reyes SO
AU  - Meng X
AU  - Möller P
AU  - Moreno-Corona N
AU  - Niemela JE
AU  - Novakovsky G
AU  - Perez-Caraballo JJ
AU  - Picard C
AU  - Poggi L
AU  - Puig-Lombardi ME
AU  - Randall KL
AU  - Reisser A
AU  - Schmitt Y
AU  - Seneviratne S
AU  - Sharma M
AU  - Stoddard J
AU  - Sundararaj S
AU  - Sutton H
AU  - Tran LQ
AU  - Wang Y
AU  - Wasserman WW
AU  - Wen Z
AU  - Winkler W
AU  - Xiong E
AU  - Yang AWH
AU  - Yu M
AU  - Zhang L
AU  - Zhang H
AU  - Zhao Q
AU  - Zhen X
AU  - Enders A
AU  - Kracker S
AU  - Martinez-Barricarte R
AU  - Mathas S
AU  - Rosenzweig SD
AU  - Schwarz K
AU  - Turvey SE
AU  - Wang JY
PY  - 2023
JO  - Science immunology
DO  - 10.1126/sciimmunol.ade7953
UR  - https://doi.org/10.1126/sciimmunol.ade7953
ER  -

APA

Consortium, I. I., O, F., A, J., HS, K., Q, M., U, P., N, S., R, T., Z, Y., M, D. L. A. A., CM, B., M, G., JA, G., S, G., G, G. V., KJ, H., M, H., J, H., D, M., S, P., X, Q., J, R., AS, S., AT, S., B, S., J, S., S, U., E, V., W, W., X, W., W, Y., X, Z., Q, Z., A, A., I, A., TFE, B., B, B., A, B., G, B., JC, B., JL, C., MG, C., M, C., L, C., IA, C., M, C., C, C., O, D., KL, D. B., H, E., X, F., V, F., JCM, G., A, G., S, G., B, H., TR, H., EM, J., M, J., A, J., C, L., N, L., Y, L., S, L., HY, L., SO, L., X, M., P, M., N, M., JE, N., G, N., JJ, P., C, P., L, P., ME, P., KL, R., A, R., Y, S., S, S., M, S., J, S., S, S., H, S., LQ, T., Y, W., WW, W., Z, W., W, W., E, X., AWH, Y., M, Y., L, Z., H, Z., Q, Z., X, Z., A, E., S, K., R, M., S, M., SD, R., K, S., SE, T., & JY, W. (2023). A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.. Science immunology. https://doi.org/10.1126/sciimmunol.ade7953

Source records

pubmed · retrieved 2026-09-24T20:40:09.509Z
europe-pmc · retrieved 2026-09-24T20:40:09.524Z
hal · retrieved 2026-09-24T20:40:09.595Z