Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.

Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL, Undiagnosed Diseases Network

Open source

DOI: 10.1136/annrheumdis-2022-222629
Published: 2022 Oct
Container: Annals of the rheumatic diseases
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1136/annrheumdis-2022-222629,
  title = {Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.},
  author = {Kozycki CT and Kodati S and Huryn L and Wang H and Warner BM and Jani P and Hammoud D and Abu-Asab MS and Jittayasothorn Y and Mattapallil MJ and Tsai WL and Ullah E and Zhou P and Tian X and Soldatos A and Moutsopoulos N and Kao-Hsieh M and Heller T and Cowen EW and Lee CR and Toro C and Kalsi S and Khavandgar Z and Baer A and Beach M and Long Priel D and Nehrebecky M and Rosenzweig S and Romeo T and Deuitch N and Brenchley L and Pelayo E and Zein W and Sen N and Yang AH and Farley G and Sweetser DA and Briere L and Yang J and de Oliveira Poswar F and Schwartz IVD and Silva Alves T and Dusser P and Koné-Paut I and Touitou I and Titah SM and van Hagen PM and van Wijck RTA and van der Spek PJ and Yano H and Benneche A and Apalset EM and Jansson RW and Caspi RR and Kuhns DB and Gadina M and Takada H and Ida H and Nishikomori R and Verrecchia E and Sangiorgi E and Manna R and Brooks BP and Sobrin L and Hufnagel RB and Beck D and Shao F and Ombrello AK and Aksentijevich I and Kastner DL and Undiagnosed Diseases Network},
  year = {2022},
  journal = {Annals of the rheumatic diseases},
  doi = {10.1136/annrheumdis-2022-222629},
  url = {https://doi.org/10.1136/annrheumdis-2022-222629}
}

RIS

TY  - JOUR
TI  - Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
AU  - Kozycki CT
AU  - Kodati S
AU  - Huryn L
AU  - Wang H
AU  - Warner BM
AU  - Jani P
AU  - Hammoud D
AU  - Abu-Asab MS
AU  - Jittayasothorn Y
AU  - Mattapallil MJ
AU  - Tsai WL
AU  - Ullah E
AU  - Zhou P
AU  - Tian X
AU  - Soldatos A
AU  - Moutsopoulos N
AU  - Kao-Hsieh M
AU  - Heller T
AU  - Cowen EW
AU  - Lee CR
AU  - Toro C
AU  - Kalsi S
AU  - Khavandgar Z
AU  - Baer A
AU  - Beach M
AU  - Long Priel D
AU  - Nehrebecky M
AU  - Rosenzweig S
AU  - Romeo T
AU  - Deuitch N
AU  - Brenchley L
AU  - Pelayo E
AU  - Zein W
AU  - Sen N
AU  - Yang AH
AU  - Farley G
AU  - Sweetser DA
AU  - Briere L
AU  - Yang J
AU  - de Oliveira Poswar F
AU  - Schwartz IVD
AU  - Silva Alves T
AU  - Dusser P
AU  - Koné-Paut I
AU  - Touitou I
AU  - Titah SM
AU  - van Hagen PM
AU  - van Wijck RTA
AU  - van der Spek PJ
AU  - Yano H
AU  - Benneche A
AU  - Apalset EM
AU  - Jansson RW
AU  - Caspi RR
AU  - Kuhns DB
AU  - Gadina M
AU  - Takada H
AU  - Ida H
AU  - Nishikomori R
AU  - Verrecchia E
AU  - Sangiorgi E
AU  - Manna R
AU  - Brooks BP
AU  - Sobrin L
AU  - Hufnagel RB
AU  - Beck D
AU  - Shao F
AU  - Ombrello AK
AU  - Aksentijevich I
AU  - Kastner DL
AU  - Undiagnosed Diseases Network
PY  - 2022
JO  - Annals of the rheumatic diseases
DO  - 10.1136/annrheumdis-2022-222629
UR  - https://doi.org/10.1136/annrheumdis-2022-222629
ER  -

APA

CT, K., S, K., L, H., H, W., BM, W., P, J., D, H., MS, A., Y, J., MJ, M., WL, T., E, U., P, Z., X, T., A, S., N, M., M, K., T, H., EW, C., CR, L., C, T., S, K., Z, K., A, B., M, B., D, L. P., M, N., S, R., T, R., N, D., L, B., E, P., W, Z., N, S., AH, Y., G, F., DA, S., L, B., J, Y., F, D. O. P., IVD, S., T, S. A., P, D., I, K., I, T., SM, T., PM, V. H., RTA, V. W., PJ, V. D. S., H, Y., A, B., EM, A., RW, J., RR, C., DB, K., M, G., H, T., H, I., R, N., E, V., E, S., R, M., BP, B., L, S., RB, H., D, B., F, S., AK, O., I, A., DL, K., & Network, U. D. (2022). Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.. Annals of the rheumatic diseases. https://doi.org/10.1136/annrheumdis-2022-222629

Source records

pubmed · retrieved 2026-09-26T20:08:28.982Z