Immunologic and clinical features of 25 Amish patients with RMRP 70 A → G cartilage hair hypoplasia

Clinical Immunology

Volumn 131, Issue 1, 2009, Pages 119-128

  Rider, Nicholas L ^a   Morton, D Holmes ^b,c   Puffenberger, Erik ^b,c   Hendrickson, Christine L ^b   Robinson, Donna L ^b   Strauss, Kevin A ^b,c  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^b CLINIC FOR SPECIAL CHILDREN   (United States)

^c FRANKLIN AND MARSHALL COLLEGE   (United States)

Author keywords

Autoimmune hemolytic anemia; Cartilage hair hypoplasia; Juvenile rheumatoid arthritis; Primary immunodeficiency; RMRP; SCID; Severe combined immunodeficiency

Indexed keywords

IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ADOLESCENT; ADULT; AMISH; ARTICLE; BONE DYSPLASIA; BONE MARROW TRANSPLANTATION; CARTILAGE HAIR HYPOPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; INFECTION RISK; INFECTION SENSITIVITY; LYMPHOCYTOPENIA; MALE; NATURAL KILLER CELL; PRIORITY JOURNAL; RECURRENT INFECTION; RMRP GENE; SEVERE COMBINED IMMUNODEFICIENCY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA; ENDORIBONUCLEASES; FEMALE; HUMANS; INFANT; MALE; OSTEOCHONDRODYSPLASIAS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; RIBONUCLEOPROTEINS; YOUNG ADULT;

EID: 63249116551     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2008.11.001     Document Type: Article

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