Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

Journal of Clinical Immunology

Volumn 35, Issue 1, 2015, Pages 11-14

  Hartman, Heather N ^a   Niemela, Julie ^b   Hintermeyer, Mary K ^c   Garofalo, Mary ^b   Stoddard, Jennifer ^b   Verbsky, James W ^a   Rosenzweig, Sergio D ^b   Routes, John M ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c Children's Hospital of Wisconsin   (United States)

Author keywords

immunodeficiency; PIK3CD; primary sclerosing cholangitis; recurrent infections

Indexed keywords

ACICLOVIR; ANTIBIOTIC AGENT; CD4 ANTIGEN; HLA DR ANTIGEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE 3 KINASE; PIK3CD PROTEIN, HUMAN;

ADOLESCENCE; ADULT; ANEMIA; ARTICLE; B LYMPHOCYTE; BILE DUCT DISEASE; BONE; BONE MARROW BIOPSY; BRONCHIOLITIS; CAUCASIAN; CELLULITIS; CERVICAL LYMPHADENITIS; CHICKENPOX; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLON BIOPSY; COLONOSCOPY; CYTOPENIA; DENTAL CARIES; DIARRHEA; DUCTOPENIA; ECZEMA; FACIAL CELLULITIS; FEMALE; FIBROSIS; FLOW CYTOMETRY; GAIN OF FUNCTION MUTATION; GASTROESOPHAGEAL REFLUX; GERMINAL CENTER; HEALTH INSURANCE; HEPATOSPLENOMEGALY; HUMAN; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN A NEPHROPATHY; IMMUNOTHERAPY; IMPETIGO; KAPOSI VARICELLIFORM ERUPTION; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER TRANSPLANTATION; LUNG INFECTION; LYMPH NODE BIOPSY; LYMPHADENITIS; LYMPHADENOPATHY; LYMPHOCYTOPENIA; MALE; MEMORY CELL; MOTHER; NEOCHOLANGIOGENSIS; OTITIS MEDIA; OUTPATIENT; PANCYTOPENIA; PERIDUCTAL FIBROSIS; PHENOTYPE; PNEUMONIA; PRIMARY SCLEROSING CHOLANGITIS; PRIORITY JOURNAL; RAGWEED; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SIBLING; SINUSITIS; SKIN TEST; SUPERINFECTION; T LYMPHOCYTE; THROMBOCYTOPENIA; TOOTH ABSCESS; ULCERATIVE COLITIS; UTERINE CERVIX DISEASE; VARICELLA PNEUMONIA; VASCULITIS; VERRUCA PLANTARIS; VIRUS PNEUMONIA; VOMITING; AMINO ACID SUBSTITUTION; CASE REPORT; ENZYMOLOGY; GENETICS; HETEROZYGOTE; IMMUNE DEFICIENCY; IMMUNOLOGY; LIVER; METABOLISM; MISSENSE MUTATION; PATHOLOGY; PEDIGREE; SCLEROSING CHOLANGITIS;

ADULT; AMINO ACID SUBSTITUTION; CHILD; CHOLANGITIS, SCLEROSING; CLASS I PHOSPHATIDYLINOSITOL 3-KINASES; FEMALE; HETEROZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LIVER; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 84943195340     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0109-1     Document Type: Article

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