Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling.

Chen P, Le KM, Li W, Hinrichsen F, Liu X, Braathen RS, Mamia N, Szymanska M, Li Z, Trotta L, Almusa H, Mamia K, Glumoff V, Holland P, Anders S, Kalinichenko A, Kaustio M, Seppänen MRJ, Haapaniemi EM, Varjosalo M, Martelius T, Grönholm J, Saarela J

Open source

DOI
10.1016/j.jaci.2026.03.030
Published
2026 Aug
Container
The Journal of allergy and clinical immunology
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.jaci.2026.03.030,
  title = {Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling.},
  author = {Chen P and Le KM and Li W and Hinrichsen F and Liu X and Braathen RS and Mamia N and Szymanska M and Li Z and Trotta L and Almusa H and Mamia K and Glumoff V and Holland P and Anders S and Kalinichenko A and Kaustio M and Seppänen MRJ and Haapaniemi EM and Varjosalo M and Martelius T and Grönholm J and Saarela J},
  year = {2026},
  journal = {The Journal of allergy and clinical immunology},
  doi = {10.1016/j.jaci.2026.03.030},
  url = {https://doi.org/10.1016/j.jaci.2026.03.030}
}

RIS

TY  - JOUR
TI  - Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling.
AU  - Chen P
AU  - Le KM
AU  - Li W
AU  - Hinrichsen F
AU  - Liu X
AU  - Braathen RS
AU  - Mamia N
AU  - Szymanska M
AU  - Li Z
AU  - Trotta L
AU  - Almusa H
AU  - Mamia K
AU  - Glumoff V
AU  - Holland P
AU  - Anders S
AU  - Kalinichenko A
AU  - Kaustio M
AU  - Seppänen MRJ
AU  - Haapaniemi EM
AU  - Varjosalo M
AU  - Martelius T
AU  - Grönholm J
AU  - Saarela J
PY  - 2026
JO  - The Journal of allergy and clinical immunology
DO  - 10.1016/j.jaci.2026.03.030
UR  - https://doi.org/10.1016/j.jaci.2026.03.030
ER  - 

APA

P, C., KM, L., W, L., F, H., X, L., RS, B., N, M., M, S., Z, L., L, T., H, A., K, M., V, G., P, H., S, A., A, K., M, K., MRJ, S., EM, H., M, V., T, M., J, G., & J, S. (2026). Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling.. The Journal of allergy and clinical immunology. https://doi.org/10.1016/j.jaci.2026.03.030

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