Enzyme Sample List

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.