Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

Journal of Allergy and Clinical Immunology

Volumn 136, Issue 5, 2015, Pages 1139-1149

  Pérez de Diego, Rebeca ^a   Sánchez Ramón, Silvia ^b   López Collazo, Eduardo ^a   Martínez Barricarte, Rubén ^c   Cubillos Zapata, Carolina ^a   Ferreira Cerdán, Antonio ^a   Casanova, Jean Laurent ^c,d,e,f   Puel, Anne ^c,e,f  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^c ROCKEFELLER UNIVERSITY   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

B cell lymphoma 10; CARMA1; caspase recruitment domain 9; combined immunodeficiency; mucosa associated lymphoid tissue lymphoma translocation gene 1; Primary immunodeficiency

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; CASPASE RECRUITMENT DOMAIN PROTEIN 11; CASPASE RECRUITMENT DOMAIN PROTEIN 9; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MESSENGER RNA; MUCOSA ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION 1; MULTIPROTEIN COMPLEX; PROTEIN BCL 10; TOLL LIKE RECEPTOR 4; UNCLASSIFIED DRUG; BCL10 PROTEIN, HUMAN; CARD10 PROTEIN, HUMAN; CARD11 PROTEIN, HUMAN; CARD9 PROTEIN, HUMAN; CASPASE; CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; GUANYLATE CYCLASE; MALT1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR PROTEIN;

ADAPTIVE IMMUNITY; B LYMPHOCYTE; CELL FUNCTION; COMBINED IMMUNODEFICIENCY; GAIN OF FUNCTION MUTATION; GENE MUTATION; GERMLINE MUTATION; HUMAN; IMMUNE DEFICIENCY; IMMUNITY; IMMUNOGLOBULIN PRODUCTION; INFLAMMATION; INNATE IMMUNITY; LOSS OF FUNCTION MUTATION; LYMPHOCYTE PROLIFERATION; MALIGNANT NEOPLASM; MARGINAL ZONE LYMPHOMA; NONHUMAN; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION; SYSTEMIC MYCOSIS; T LYMPHOCYTE; ANIMAL; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; KNOCKOUT MOUSE; METABOLISM; MOUSE; MUTATION; MYCOSIS;

ADAPTIVE IMMUNITY; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; CARD SIGNALING ADAPTOR PROTEINS; CASPASES; GENETIC PREDISPOSITION TO DISEASE; GUANYLATE CYCLASE; HUMANS; IMMUNITY, INNATE; IMMUNOLOGIC DEFICIENCY SYNDROMES; MICE; MICE, KNOCKOUT; MUTATION; MYCOSES; NEOPLASM PROTEINS; POLYMORPHISM, GENETIC;

EID: 85027937448     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.06.031     Document Type: Review

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