Description:
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
ADENOSINE DEAMINASE; ADA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
7 |
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| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4 |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 1 |
608958.0015; ADA DEFICIENCY, PARTIAL |
| Identified Mutation |
ALA215THR; In cell line GM02294, Hirschhorn et al. [Proc Natl Acad Sci U S A 87: 6171 (1990)] found homozygosity for a G-to-A transition of nucleotide 643 in exon 7 resulting in a change of alanine215-to-threonine. |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 2 |
608958.0015; ADA DEFICIENCY, PARTIAL |
| Identified Mutation |
ALA215THR; In cell line GM02294, Hirschhorn et al. [Proc Natl Acad Sci U S A 87: 6171 (1990)] found homozygosity for a G-to-A transition of nucleotide 643 in exon 7 resulting in a change of alanine215-to-threonine. |
| Remarks |
Clinically affected; born at 8 months gestation due to placenta previa; bilateral polydactyly and hypospadias noted at birth; IVP demonstrated obstruction at the left ureteropelvic junction and possible vesicoureteral reflux with minimal dilation of the calyces; in first week of life chest x-ray suggested right lower lobe infiltrate; ADA deficiency of red blood cells was identified through neonatal screening for inherited disordes; normal thymic shadow; height and weight progressed from 3rd to 25th percentile at 20 months of age; normal development; transient hypogammaglobulinemia; normal serum levels of IgG, IgM, IgA, and IgE at 10-12 months of age; eosiniphilia but isoagglutinins are present; deficient RBC ADA activity; partial ADA deficiency in fibroblasts and lymphoblasts; enzyme phenotypes: 6PGD=A, G6PD=B, ADA=1, Neutral A-glucosidase C=2; donor subject is homozygous for a G>A transition at nucleotide 643 in exon 7 of the ADA gene [643G>A] resulting in a substitution of threonine for alanine at codon 215 [Ala215Thr(A215T)]; same donor as GM02294 lymphocyte. |
| Borkowsky W, Gershon AA, Shenkman L, Hirschhorn R, Adenosine deaminase deficiency without immunodeficiency: clinical and metabolic studies. Pediatr Res14:885-9 1980 |
| PubMed ID: 6251420 |
| dbSNP |
dbSNP ID: 15881 |
| Gene Cards |
ADA |
| Gene Ontology |
GO:0004000 adenosine deaminase activity |
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GO:0009117 nucleotide metabolism |
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GO:0009168 purine ribonucleoside monophosphate biosynthesis |
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GO:0016787 hydrolase activity |
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GO:0019735 antimicrobial humoral response (sensu Vertebrata) |
| NCBI Gene |
Gene ID:100 |
| NCBI GTR |
102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
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608958 ADENOSINE DEAMINASE; ADA |
| OMIM |
102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
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608958 ADENOSINE DEAMINASE; ADA |
| Omim Description |
ADA-SCID, INCLUDED |
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ADENOSINE AMINOHYDROLASESEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY,INCLUDED |
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ADENOSINE DEAMINASE; ADA |
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SCID DUE TO ADA DEFICIENCY, INCLUDED |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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