Role of TNFRSF13B variants in patients with common variable immunodeficiency

Blood

Volumn 114, Issue 13, 2009, Pages 2846-2848

  Martínez Pomar, Natalia ^a   Detková, Drahomíra ^b   Arostegui, Juan I ^c   Alvarez, Antonio ^b   Soler Palacín, Pere ^b   Vidaller, Antonio ^d   Espanol, Teresa ^b   Sampalo, Almudena ^e   De Gracia, Javier ^b   Hernandez, Manuel ^b   Yagüe, Jordi ^c   Matamoros, Nuria ^a  

^a HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR; MUTANT PROTEIN; TNFRSF13B PROTEIN, HUMAN;

ADULT; AGED; ALLELE; AUTOIMMUNE DISEASE; BRONCHIECTASIS; COHORT ANALYSIS; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; CROHN DISEASE; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN PRODUCTION; LETTER; LYMPHOID HYPERPLASIA; LYMPHOPROLIFERATIVE DISEASE; MAJOR CLINICAL STUDY; MALE; MEDICAL SOCIETY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RECURRENT INFECTION; SIGNAL TRANSDUCTION; SPAIN; SPLENOMEGALY; ADOLESCENT; CHILD; FAMILY; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COMMON VARIABLE IMMUNODEFICIENCY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTANT PROTEINS; PHENOTYPE; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR PROTEIN; YOUNG ADULT;

EID: 70350512370     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-05-213025     Document Type: Letter

References (8)

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2. Castigli E, Wilson SA, Garibyan L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37(8):829-834. (Pubitemid 41077108)
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7. Bacchelli C, Buckridge S, Thrasher AJ, et al. Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency. Clin Exp Immunol. 2007;149(3):401-409. (Pubitemid 47256166)
8. Zhan L, Radigan L, Salzer U, et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozyogotes. J Allergy Clin Immunol. 2007;120(5):1178-1185. (Pubitemid 350047480)