Ramme K - Search Results

1

Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.

Sundin M, Uhlin M, Gaballa A, Ramme K, Kolios AG, Marits P, Nilsson J. Sundin M, et al. Among authors: ramme k. Pediatr Allergy Immunol. 2018 Feb;29(1):108-111. doi: 10.1111/pai.12812. Epub 2017 Dec 12. Pediatr Allergy Immunol. 2018. PMID: 28981982 No abstract available.

2

Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.

Sundin M, Marits P, Ramme K, Kolios AGA, Nilsson J. Sundin M, et al. Among authors: ramme k. Clin Immunol. 2019 Mar;200:16-18. doi: 10.1016/j.clim.2018.12.019. Epub 2019 Jan 7. Clin Immunol. 2019. PMID: 30630113

3

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.

Äng C, Zetterström RH, Ramme K, Axelsen E, Marits P, Sundin M. Äng C, et al. Among authors: ramme k. Front Immunol. 2023 Sep 12;14:1257581. doi: 10.3389/fimmu.2023.1257581. eCollection 2023. Front Immunol. 2023. PMID: 37771582 Free PMC article.

4

Strong expression of p53 protein in bone marrow samples after hematopoietic stem cell transplantation indicates risk of relapse in pediatric acute lymphoblastic leukemia patients.

Mattsson K, Honkaniemi E, Ramme K, Barbany G, Sander BM, Gustafsson BM. Mattsson K, et al. Among authors: ramme k. Pediatr Transplant. 2019 Jun;23(4):e13408. doi: 10.1111/petr.13408. Epub 2019 Apr 6. Pediatr Transplant. 2019. PMID: 30955249

5

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M. Lam MT, et al. Among authors: ramme k. J Exp Med. 2019 Dec 2;216(12):2778-2799. doi: 10.1084/jem.20190147. Epub 2019 Oct 10. J Exp Med. 2019. PMID: 31601675 Free PMC article.

6

Origins of STIL-TAL1 fusion genes in children who later developed paediatric T-cell acute lymphoblastic leukaemia: An investigation of neonatal blood spots.

Gustafsson BM, Mattsson K, Bogdanovic G, Leijonhufvud G, Honkaniemi E, Ramme K, Ford AM. Gustafsson BM, et al. Among authors: ramme k. Pediatr Blood Cancer. 2018 Nov;65(11):e27310. doi: 10.1002/pbc.27310. Epub 2018 Jul 3. Pediatr Blood Cancer. 2018. PMID: 29968961

7

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Meeths M, Bryceson YT, Rudd E, Zheng C, Wood SM, Ramme K, Beutel K, Hasle H, Heilmann C, Hultenby K, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI. Meeths M, et al. Among authors: ramme k. Pediatr Blood Cancer. 2010 Apr;54(4):563-72. doi: 10.1002/pbc.22357. Pediatr Blood Cancer. 2010. PMID: 19953648

8

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

Rudd E, Bryceson YT, Zheng C, Edner J, Wood SM, Ramme K, Gavhed S, Gürgey A, Hellebostad M, Bechensteen AG, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI. Rudd E, et al. Among authors: ramme k. J Med Genet. 2008 Mar;45(3):134-41. doi: 10.1136/jmg.2007.054288. Epub 2007 Nov 9. J Med Genet. 2008. PMID: 17993578

9

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.

Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI. Horne A, et al. Among authors: ramme kg. Br J Haematol. 2008 Oct;143(1):75-83. doi: 10.1111/j.1365-2141.2008.07315.x. Epub 2008 Aug 15. Br J Haematol. 2008. PMID: 18710388 Free article.

10

Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.

Karlsson J, Carlsson G, Ramme KG, Hägglund H, Fadeel B, Nordenskjöld M, Henter JI, Palmblad J, Pütsep K, Andersson M. Karlsson J, et al. Among authors: ramme kg. Br J Haematol. 2007 Apr;137(2):166-9. doi: 10.1111/j.1365-2141.2007.06530.x. Br J Haematol. 2007. PMID: 17391497 Free article.

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