| Catalog ID | Description | Percent Normal Activity | Specimen Assayed | Remark |
| GM00469 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 1 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM01390 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM01671 | CARTILAGE-HAIR HYPOPLASIA; CHH | | fibroblasts | According to the submitter, biochemical test results for this subject showed increased enzyme activity. |
| GM01715 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 1 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM01997 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02028 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02294 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 10-15 | lymphoblasts | Adrian et al (Mol Cell Biol 4:1712-1717 1984) performed S1 endonuclease cleavage of ADA cDNA-mRNA hybrids to show that the ADA mRNA from this culture yielded fragments that were distinctly different from ADA mRNA fragments from normal controls. The ADA cDNA utilized for these experiments represented the complete mRNA sequence with the possible exception of some of the 5 prime untranslated region. Hirschhorn et al (J Clin Invest 71:1887-1892 1983) reported that the ADA activity for this cell culture was 10-15% of normal and had a diminished heat stability. The enzyme showed a normal electrophoretic mobility but had a more basic isoelectric point than normal (5.0 vs 4.9). |
| GM02433 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02434 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <1.5 | amniotic fluid | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02436 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02445 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 1 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02445 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 18 | mixed mononuclear cells | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02446 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02471 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <1.5 | amniotic fluid | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02472 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02578 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 1 | lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02580 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02581 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02582 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02583 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02605 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02606 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02607 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02608 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02609 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02610 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02756 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <5 | lymphoblasts | Wiginton et al (J Biol Chem 257:3211-3217 1982) observed that this cell culture contained < 5% of normal ADA activity and immunoreactive protein. Adrian et al (Hum Genet 68:169-172 1984) reported that this ADA-deficient cell culture had normal relative levels of ADA mRNA. Sequence analysis of cDNA clones synthesized from ADA mRNA from this culture revealed a different point mutation in each allele that causes amino acid changes. In one allele amino acid 329 is changed from alanine to valine (GCG>GTG at position #1081). In the second allele amino acid 211 is changed from arginine to histidine (CGT>CAT at position 727). In addition to these point mutations each allele has a point mutation in the third base of a codon that does not alter the amino acid encoded (Ser-110 is TCT rather than TCC and Val-629 is GTA rather than GTG). Analysis of additional clones of each of these alleles showed unusual characteristics which suggest occasional aberrant splicing of ADA pre-mRNA (Akeson et al Proc Natl Acad Sci USA 84:59475951 1987). Akeson et al (J Biol Chem 263:16291-16296 1988) inserted the mutant ADA cDNA from this cell line into an expression vector and tested it in a transient expression system. ADA mRNA transcribed from the mutant vector failed to produce significant levels of enzymatically active ADA while ADA mRNA transcribed from a vector with the normal ADA cDNA did produce high levels of enzymatically active ADA. These authors also noted that the point mutation at amino acid no. 211 (Arg to His) resulting from a point mutation at base no. 727 (G to A) was also observed in another ADA-deficient cell line (GM02606) and the mutation in amino acid no. 329 (Ala to Val) resulting from a point mutation at base no. 1081 (C to T) had been observed for a different ADA-deficient cell line (GM02825). |
| GM02824 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <5 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02825 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <5 | lymphoblasts | Wiginton et al (J Biol Chem 257:3211-3217 1982) observed that this cell culture contained <5% of normal ADA activity and immunoreactive protein. Adrian et al (Hum Genet 68:169-172 1984) reported that this ADA-deficient cell culture had normal relative levels of ADA mRNA. This ADA mRNA was found to be of abnormal size (Adrian et al Mol Cell Biol 4:1712-1717 1984). S1 nuclease mapping revealed two ADA mRNA bands of equal intensity. One of these bands was full-length ADA mRNA and the other band was shorter lacking exon 4. Upon analysis of cDNA synthesized from this culture ADA mRNA revealed a point mutation in the allele which produced the full-length mRNA. This mutation at base 1081 (GCG>GTG) changes amino acid 329 from alanine to valine. Several of the ADA cDNA clones extended 5 prime of the major initiation start site indicating multiple start sights for ADA transcription. Blot hybridization of genomic DNA eliminated the possibility of a large deletion in the gene that included exon 4. Isolation and sequence analysis of cDNAs corresponding to this allele showed no mutations within the remaining exons that would alter the amino acid sequence. Akeson et al (Proc Natl Acad Sci USA 84:5947-5951 1987) concluded that it seemed likely that mutation(s) within intron 3 and/or intron 4 caused deletion of exon 4 during the splicing process. The deletion of exon 4 does not alter the translational reading frame but it is likely that any protein produced would be rapidly degraded. Akeson et al (J Biol Chem 263:16291-16296 1988) reported that sequence analysis of polymerase chain reaction-amplified DNA from this culture showed a single base mutation of A to G within the invariant bases of the 3 prime splice site of intron 3 that could account for the missplicing of exon 4. This mutation occured in base 24971 of the ADA gene. Insertion of the mutant ADA cDNA from this cell line into an expression vector and testing in a transient expression system revealed that ADA mRNAs transcribed from the mutant vector failed to produce significant levels of enzymatically active ADA while ADA mRNA transcribed from a vector with the normal ADA cDNA did produce high levels of enzymatically active ADA. These authors also noted that the same mutation in amino acid no. 329 (Ala to Val) resulting from a point mutation in base no. 1081 (C to T) was also found in another ADA-deficient cell line (GM02756). |
| GM03029 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 10-30 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03043 | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL | 10-12 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03071 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | 0 | muscle | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03073 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | 40 | muscle | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03075 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | 70 | muscle | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03136 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03137 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | fibroblasts/lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04258 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | | lymphoblasts/RBCs/granulocytes | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04395 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 0 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04395 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 14 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04395 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 4 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04396 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 0 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04396 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 14 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04396 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 4 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM04396 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 5 | lymphoblasts | Hirschhorn et al (J Clin Invest 71:1887-1892 1983) reported that the ADA activity in this cell culture was 5% of normal activity and had only a somewhat diminished heat stability. The enzyme showed a more anodal electrophoretic mobility than normal and had a lower more acidic isoelectric point (4.8 vs 4.9). As determined by HPLC there was no detectable difference in the molecular weight of the enzyme in this culture versus the ADA in normal cultures No abnormality in Km could be detected using adenosine as the substrate. |
| GM05816 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <1 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM05816 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 28 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM05817 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM05817 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 91 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06142 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | <1 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06142 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 65 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06143 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <1 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06143 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 86 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06200 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <1 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06200 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 30 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06201 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | <50 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06415 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 71 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06416 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 65 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM07103 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 0 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM07103 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 16 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM07104 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 17 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM07104 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 39 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM07945 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | | fibroblasts/lymphoblasts/RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM08832 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 0 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM08834 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM10078 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 22 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM10078 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 65 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM10079 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 20 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM10079 | ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 41 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM11411 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 0.1 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM11411 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 0.2 | RBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM11412 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM11413 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 50 | lymphoblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |