Publication
Hirschhorn R, Ellenbogen A, Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency. Am J Hum Genet38:13-25 1986 |
PubMed ID: 3946419 |
|
Records Return:
(17)
|
|
|
|
Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM07103 | Female | 6 WK | 996 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM07104 | Female | 37 YR | 996 | mother | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM06416 | Female | 30 YR | 961 | mother | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM06143 | Male | 9 MO | 961 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM06415 | Male | 32 YR | 961 | father | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM06200 | Female | 3 MO | 923 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM06201 | Female | 20 YR | 923 | mother | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM05816 | Female | 3 WK | 866 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM05817 | Female | 24 YR | 866 | mother | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM04396 | Male | 6 MO | 717 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM03043 | Male | 16 YR | 634 | proband | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL | GM |
GM02294 | Male | 10 MO | 633 | proband | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM |
GM01023 | Male | 31 YR | 24 | father | FUCOSIDOSIS | GM |
GM01205 | Female | 26 YR | 1904 | mother | CITRULLINEMIA, CLASSIC | GM |
GM01206 | Male | 27 YR | 1904 | father | CITRULLINEMIA, CLASSIC | GM |
GM06142 | Male | 7 MO | | proband | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | GM |
GM03201 | Male | 26 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
|
|
|