Search Results - "Ramme, Kim"

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 by Äng, Christofer, Zetterström, Rolf H., Ramme, Kim, Axelsen, Emma, Marits, Per, Sundin, Mikael

“…This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe…”
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Characterization of PRF1, STX11 and UNC13D genotype‐phenotype correlations in familial hemophagocytic lymphohistiocytosis by Horne, AnnaCarin, Ramme, Kim Göransdotter, Rudd, Eva, Zheng, Chengyun, Wali, Yasser, Al‐Lamki, Zakia, Gürgey, Aytemiz, Yalman, Nevin, Nordenskjöld, Magnus, Henter, Jan‐Inge

“…Summary Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly…”
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Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia by Carlsson, Göran, Melin, Malin, Dahl, Niklas, Ramme, Kim Göransdotter, Nordenskjöld, Magnus, Palmblad, Jan, Henter, Jan-Inge, Fadeel, Bengt

“…Congenital neutropenia in man was first reported 50 years ago by the Swedish paediatrician Rolf Kostmann. He coined the term ‘infantile genetic…”
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Low plasma levels of the protein pro‐LL‐37 as an early indication of severe disease in patients with chronic neutropenia by Karlsson, Jenny, Carlsson, Göran, Ramme, Kim Göransdotter, Hägglund, Hans, Fadeel, Bengt, Nordenskjöld, Magnus, Henter, Jan‐Inge, Palmblad, Jan, Pütsep, Katrin, Andersson, Mats

“…Summary Chronic neutropenia comprises several different diseases that vary in degree of severity and management. We analysed the levels of the…”
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Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis by Ma, Daoxin, Rudd, Eva, Edner, Josefine, Gavhed, Sofie, Ramme, Kim Göransdotter, Fadeel, Bengt, Nordenskjöld, Magnus, Henter, Jan-Inge, Zheng, Chengyun

“…In the present study, DNA sequencing of the genes SRGN, ARF6, AP3B1, and SH2D1A was performed in a well defined cohort of 18 families with familial…”
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Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C by Sundin, Mikael, Marits, Per, Ramme, Kim, Kolios, Antonios G.A., Nilsson, Jakob

“…Severe combined immunodeficiency (SCID) can be caused by deleterious mutations in DCLRE1C, leading to deficient non-homologous end joining by compromising the…”
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Late presenting atypical severe combined immunodeficiency ( SCID ) associated with a novel missense mutation in DCLRE 1C by Sundin, Mikael, Uhlin, Michael, Gaballa, Ahmed, Ramme, Kim, Kolios, Antonios GA, Marits, Per, Nilsson, Jakob

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Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C by Sundin, Mikael, Uhlin, Michael, Gaballa, Ahmed, Ramme, Kim, Kolios, Antonios GA, Marits, Per, Nilsson, Jakob

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Strong expression of p53 protein in bone marrow samples after hematopoietic stem cell transplantation indicates risk of relapse in pediatric acute lymphoblastic leukemia patients by Mattsson, Kristin, Honkaniemi, Emma, Ramme, Kim, Barbany, Gisela, Sander, Birgitta M., Gustafsson, Britt M.

“…Background For pediatric ALL patients that relapse or respond poorly to conventional chemotherapy treatment, HSCT is one treatment option. Still, relapse…”
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Origins of STIL‐TAL1 fusion genes in children who later developed paediatric T‐cell acute lymphoblastic leukaemia: An investigation of neonatal blood spots by Gustafsson, Britt M., Mattsson, Kristin, Bogdanovic, Gordana, Leijonhufvud, Gustaf, Honkaniemi, Emma, Ramme, Kim, Ford, Anthony M.

“…SCL/TAL1 interrupting locus (STIL)‐T‐cell acute leukaemia (TAL1) fusion genes are present in approximately 11‐27% of children with paediatric T‐cell acute…”
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Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations by Meeths, Marie, Bryceson, Yenan T., Rudd, Eva, Zheng, Chengyun, Wood, Stephanie M., Ramme, Kim, Beutel, Karin, Hasle, Henrik, Heilmann, Carsten, Hultenby, Kjell, Ljunggren, Hans-Gustaf, Fadeel, Bengt, Nordenskjöld, Magnus, Henter, Jan-Inge

“…Background Griscelli syndrome type 2 (GS2) is an autosomal‐recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial…”
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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 by Äng, Christofer, Zetterström, Rolf H, Ramme, Kim, Axelsen, Emma, Marits, Per, Sundin, Mikael

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Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C by Sundin, Mikael, Uhlin, Michael, Gaballa, Ahmed, Ramme, Kim, Kolios, Antonios Ga, Marits, Per, Nilsson, Jakob

Get full text