Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome

Clinical and Experimental Immunology

Volumn 151, Issue 3, 2008, Pages 448-454

  Khan, S ^a   Hinks, J ^b   Shorto, J ^b   Schwarz, M J ^b   Sewell, W A C ^a,c  

^a SCUNTHORPE GENERAL HOSPITAL   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF LINCOLN   (United Kingdom)

Author keywords

Common variable immunodeficiency; Immunodeficiency; Shwachman Bodian Diamond syndrome gene; Shwachman Diamond syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; MALE; PRIORITY JOURNAL; SBDS GENE; SHWACHMAN SYNDROME;

ADOLESCENT; ADULT; BRONCHIECTASIS; CHILD; CHILD, PRESCHOOL; COMMON VARIABLE IMMUNODEFICIENCY; DNA MUTATIONAL ANALYSIS; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; HUMANS; INFANT; LEUKOPENIA; MALE; MIDDLE AGED; MUTATION; PROTEINS; SYNDROME;

EID: 38549100554     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/j.1365-2249.2007.03556.x     Document Type: Article

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