Biomaterial Database

Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID). 1991

V S Chakravarti, and P Borns, and J Lobell, and S D Douglas

Section of Immunology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine.

Adenosine deaminase (ADA) deficiency may manifest as severe combined immunodeficiency (SCID) in early infancy. Some of these children develop radiologic changes which may be in part related to effects of this enzyme deficiency on the bony epiphysis. We describe the radiologic changes in a neonate with ADA deficiency and their resolution with polyethylene glycol conjugated adenosine deaminase (PEG-ADA, ADAGEN: Enzon, Inc., South Plainfield, NJ) enzyme replacement therapy.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001848	Bone Diseases, Developmental	Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.	Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000243	Adenosine Deaminase	An enzyme that catalyzes the hydrolysis of ADENOSINE to INOSINE with the elimination of AMMONIA.	Adenosine Aminohydrolase,Aminohydrolase, Adenosine,Deaminase, Adenosine
D012272	Ribs	A set of twelve curved bones which connect to the vertebral column posteriorly, and terminate anteriorly as costal cartilage. Together, they form a protective cage around the internal thoracic organs.	Rib
D016511	Severe Combined Immunodeficiency	Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).	Bare Lymphocyte Syndrome,Immunodeficiency, Severe Combined,Omenn Syndrome,Immunodeficiency Syndrome, Severe Combined,Immunologic Deficiency, Severe Combined,Omenn's Syndrome,Reticuloendotheliosis, Familial,Severe Combined Immune Deficiency,Severe Combined Immunodeficiency Syndrome,Severe Combined Immunologic Deficiency,Bare Lymphocyte Syndromes,Combined Immunodeficiencies, Severe,Combined Immunodeficiency, Severe,Familial Reticuloendothelioses,Familial Reticuloendotheliosis,Immunodeficiencies, Severe Combined,Lymphocyte Syndrome, Bare,Lymphocyte Syndromes, Bare,Omenns Syndrome,Reticuloendothelioses, Familial,Severe Combined Immunodeficiencies,Syndrome, Bare Lymphocyte,Syndrome, Omenn,Syndrome, Omenn's,Syndromes, Bare Lymphocyte