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European journal of human genetics, ISSN 1018-4813, 2015, Volume 23, Issue 3, pp. 381 - 387
Journal Article
Journal of Immunology, ISSN 0022-1767, 06/2013, Volume 190, Issue 12, pp. 6635 - 6650
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2018, Volume 13, Issue 8, p. e0201063
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2017, Volume 376, Issue 16, pp. 1527 - 1539
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Circulation. Genomic and precision medicine, ISSN 2574-8300, 04/2018, Volume 11, Issue 4, pp. e001896 - e001896
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 03/2015, Volume 35, Issue 2, pp. 135 - 146
A male infant developed generalized rash, intestinal inflammation and severe infections including persistent cytomegalovirus. Family history was negative, T... 
combined immunodeficiency (CID) | CARMA1 | erythroderma | BCL10 | bone marrow transplant/hematopoietic cell transplant | CARD11 | immune dysregulation | ACTIVATION | SIGNALS | NUCLEAR EXPORT | T-CELL | IMMUNOLOGY | DEFICIENCY | UBIQUITINATION | 11 CARD11 | NF-KAPPA-B | Leukocytes, Mononuclear - metabolism | Humans | Child, Preschool | Infant | Male | NF-kappa B - metabolism | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | Transplantation, Homologous | Caspases - metabolism | DNA Mutational Analysis | Base Sequence | Leukocytes, Mononuclear - immunology | B-Lymphocytes - virology | Adult | Female | Severe Combined Immunodeficiency - metabolism | Neoplasm Proteins - genetics | Child | B-Lymphocytes - metabolism | Infant, Newborn | Skin - pathology | Amino Acid Sequence | Gene Expression | Signal Transduction | Caspases - genetics | Severe Combined Immunodeficiency - diagnosis | RNA, Messenger - genetics | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Immunophenotyping | Transplantation Chimera | Severe Combined Immunodeficiency - genetics | Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein | Mutation | Cell Line, Transformed | Medical colleges | Histocompatibility antigens | Analysis | HLA histocompatibility antigens | Immunodeficiency | Genetic research | Family | Genetic aspects | Transplantation | B cells | T cells | Hematopoietic stem cells | hematopoietic cell transplant | bone marrow transplant | Original Research
Journal Article
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 08/2017, Volume 10, Issue 4, pp. e001660 - e001660
Journal Article