Publication

Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA, Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation. J Clin Invest72:483-92 1983
PubMed ID: 6603477

Records Return:  (14) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM04395Male6 MO717probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM04396Male6 MO717probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM00130Male25 YR700probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM02445Male3 YR423probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM02606Male8 MO226probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM02471Male 219probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM00038Female9 YR163daughterAPPARENTLY HEALTHY NON-FETAL TISSUE
GM01078Female30 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM00131Female23 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM00333Female23 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM00969Female2 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM00498Male3 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM02756Male3 YR probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM00558Male26 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE