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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Journal Article
Cancer, ISSN 0008-543X, 04/2017, Volume 123, Issue 7, pp. 1166 - 1173
BACKGROUND CD5‐positive (CD5+) diffuse large B‐cell lymphoma (DLBCL) is characterized by frequent central nervous system recurrence and a predominant activated... 
CD79B | CARD11 (caspase recruitment domain family member 11) | diffuse large B‐cell lymphoma | CD5 | MYD88 (myeloid differentiation primary response 88) | diffuse large B-cell lymphoma | SURVIVAL | IDENTIFY | FREQUENT | ONCOGENIC MYD88 | L265P | diffuse large B | ONCOLOGY | cell lymphoma | HIGH PREVALENCE | EXPRESSION | TOOL | Doxorubicin - therapeutic use | Humans | Middle Aged | Male | Lymphoma, Large B-Cell, Diffuse - metabolism | Biomarkers, Tumor | Cyclophosphamide - therapeutic use | CARD Signaling Adaptor Proteins - genetics | Young Adult | Neoplasm Metastasis | DNA Mutational Analysis | Aged, 80 and over | Adult | Lymphoma, Large B-Cell, Diffuse - drug therapy | Genetic Association Studies | Myeloid Differentiation Factor 88 - genetics | Mutation Rate | CD5 Antigens - metabolism | Lymphoma, Large B-Cell, Diffuse - diagnosis | Phenotype | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Vincristine - therapeutic use | Guanylate Cyclase - genetics | Aged | CD79 Antigens - genetics | Mutation | Neoplasm Staging | Lymphoma, Large B-Cell, Diffuse - genetics | Prednisone - therapeutic use | Antibodies, Monoclonal, Murine-Derived - therapeutic use | Lymphomas | Research | Gene mutations | Membrane proteins | Central nervous system | Caspase | Lymphoma | Patients | Incidence | Recruitment | CD5 antigen | Lymphocytes B | Point mutation | MyD88 protein | Differentiation | Testes | Cancer | B-cell lymphoma
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 05/2018, Volume 141, Issue 5, pp. 1818 - 1830.e2
Combined immunodeficiency (CID) is a T-cell defect frequently presenting with recurrent infections, as well as associated immune dysregulation manifesting as... 
nuclear factor κB | cytokine secretion | autoimmunity | Caspase activation and recruitment domain family member 11 | eczema and food allergies | atopy | T-cell repertoire | T-cell mitogen and antigen responses | asthma | hypogammaglobulinemia | combined immunodeficiency | KAPPA-B ACTIVATION | PROTEIN | PHENOTYPE ONTOLOGY | nuclear factor kappa B | OMENN-SYNDROME | BCL10 | IMMUNOLOGY | DEFICIENCY | ELEMENTS | LYMPHOCYTE DEVELOPMENT | GENE | ALLERGY | T-CELL-RECEPTOR | CARD Signaling Adaptor Proteins - immunology | Prospective Studies | Guanylate Cyclase - immunology | Humans | CARD Signaling Adaptor Proteins - deficiency | Child, Preschool | Male | Signal Transduction - genetics | Whole Exome Sequencing - methods | CARD Signaling Adaptor Proteins - genetics | Interleukin-2 - genetics | Signal Transduction - immunology | Guanylate Cyclase - deficiency | NF-kappa B - genetics | Immunologic Deficiency Syndromes - genetics | Adult | Female | Guanylate Cyclase - genetics | T-Lymphocytes - immunology | Retrospective Studies | Interferon-gamma - genetics | Mutation | Immunologic Deficiency Syndromes - immunology | Autoimmunity | Food allergy | Immunodeficiency | Disease susceptibility | Genetic aspects | T cells | Mitogens | Activation | Lymphocytes T | Infections | Kinases | Atopy | Gene sequencing | Recruitment | Amino acid substitution | Interleukin 2 | Lymphocytes | Eczema | Skin diseases | Food hypersensitivity | Age | Food allergies | Antigens | Immune response | Secretion | Hypersensitivity | Caspase | Inflammation | Patients | Allergies | Asthma | Genetic variance | γ-Interferon
Journal Article
Immunological Reviews, ISSN 0105-2896, 01/2019, Volume 287, Issue 1, pp. 135 - 144
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
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 08/2019, Volume 10, p. 1871
Background: We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion.... 
7p22 | vasculitis | LYMPHOCYTE | CARMA1 | CGH array | 11 CARD11 | hypogammaglobulinemia | dysimmunity | IMMUNOLOGY | Genetic aspects | Immunodeficiency
Journal Article
Current Opinion in Immunology, ISSN 0952-7915, 2014, Volume 30, Issue 1, pp. 17 - 23
Journal Article