Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Blood

Volumn 129, Issue 16, 2017, Pages 2266-2279

  Tesi, Bianca ^a,b   Davidsson, Josef ^c,d   Voss, Matthias ^a   Rahikkala, Elisa ^e,f   Holmes, Tim D ^a,g   Chiang, Samuel C C ^a   Komulainen Ebrahim, Jonna ^e,f   Gorcenco, Sorina ^c   Nilsson, Alexandra Rundberg ^c   Ripperger, Tim ^h   Kokkonen, Hannaleena ^f   Bryder, David ^c   Fioretos, Thoas ^c   Henter, Jan Inge ^b   Möttönen, Merja ^e,f   Niinimäki, Riitta ^e,f   Nilsson, Lars ^d   Pronk, Cornelis Jan ^c,d   Puschmann, Andreas ^c   Qian, Hong ^a   Uusimaa, Johanna ^e,f   Moilanen, Jukka ^e,f   Tedgård, Ulf ^d   Cammenga, Jörg ^c,i,j   Bryceson, Yenan T ^a,g   more..

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c LUND UNIVERSITY   (Sweden)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

^e UNIVERSITY OF OULU   (Finland)

^f OULU UNIVERSITY HOSPITAL   (Finland)

^g UNIVERSITY OF BERGEN   (Norway)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^j LINKÖPING UNIVERSITY   (Sweden)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; GAMMA INTERFERON; INTERFERON; SAMD9L PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ARTICLE; B LYMPHOCYTE; BONE MARROW CELL; CELL PROLIFERATION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPENIA; FEMALE; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MOSAICISM; MYELODYSPLASTIC SYNDROME; NATURAL KILLER CELL; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SAMD9L GENE; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; ALLELE; CHEMISTRY; CHILD; CHROMOSOME 7; COGNITIVE DYSFUNCTION; COMPLICATION; DRUG EFFECTS; GENETICS; HEMATOPOIESIS; HETEROZYGOTE; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; IMMUNOPHENOTYPING; METABOLISM; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; PANCYTOPENIA; PATHOLOGY; PEDIGREE;

ADULT; ALLELES; B-LYMPHOCYTES; CELL PROLIFERATION; CHILD; CHROMOSOMES, HUMAN, PAIR 7; COGNITIVE DYSFUNCTION; FEMALE; GENE EXPRESSION; HEMATOPOIESIS; HETEROZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOPHENOTYPING; INTERFERON TYPE I; KILLER CELLS, NATURAL; MALE; MIDDLE AGED; MOSAICISM; MUTATION; MYELODYSPLASTIC SYNDROMES; MYELOID CELLS; PANCYTOPENIA; PEDIGREE; TUMOR SUPPRESSOR PROTEINS;

EID: 85019216846     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-10-743302     Document Type: Article

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