From rare to more common: The emerging role of omics in improving understanding and treatment of severe inflammatory and hyperinflammatory conditions

Keskitalo, S., Seppänen, M. R. J., del Sol, A. & Varjosalo, M., May 2025, In: Journal of Allergy and Clinical Immunology. 155, 5, p. 1435-1450 16 p.

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

Generation of two human induced pluripotent stem cell lines from peripheral blood mononuclear cells featuring normal or mutated STAB1 gene

Sandelin, S., Giannareas, N., Seppänen, M. R. J., Kere, J., Hollmén, M. & Närvä, E., Sept 2025, In: Stem Cell Research. 87, 5 p., 103750.

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

Intracellular concentration of ADA2 is a marker for monocyte differentiation and activation

Dong, L., Lu, B., Luo, W., Gu, X., Wu, C., Trotta, L., Seppänen, M., Zhang, Y. & Zavialov, A. V., Apr 2025, In: Frontiers of Medicine. 19, 2, p. 359-375 17 p.

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

Novel heterozygous SPI/c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia

Daddali, R., Kettunen, K., Turunen, T., Knox, A. V. C., Laine, P., Chowdhury, I., Vänttinen, M., Mamia, N., Stiegler, A. L., Boggon, T. J., Kere, J., Romberg, N., Seppänen, M. R. J., Varjosalo, M., Martelius, T. & Grönholm, J., Aug 2025, In: Clinical Immunology. 277, 7 p., 110503.

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

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

Knox, A. V. C., Cominsky, L. Y., Sun, D., Cruz Cabrera, E., Nolan, B. E., Ofray, E., Benetti, E., Visconti, C., Barzaghi, F., Rosenzweig, S. D., Lawrence, M. G., Sullivan, K. E., Yoon, S., Rachimi, S., Padem, N., Conboy, E., Stojanovic, M., Petrovic, G., Pasic, S. & Church, J. & 33 others, Ferdman, R. M., Candotti, F., Arlabosse, T., Theodoropoulou, K., Dutmer, C. M., Maródi, L., Szücs, G., Broides, A., Nahum, A., Levy, J., Kettunen, K., Daddali, R., Seppänen, M., Vänttinen, M., Martelius, T., Grönholm, J., Peri, M., Azzari, C., Ricci, S., Ojaimi, S., Edwards, E. S. J., van Zelm, M. C., Sun, J., Abolhassani, H., Pan-Hammarström, Q., Hakonarson, H., Mayr, D., Boztug, K., Boisson, B., Casanova, J. L., Le Coz, C., Poon, G. M. K. & Romberg, N., 29 May 2025, In: Blood. 145, 22, p. 2549-2560 12 p.

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