Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease

Dyminski, John W.; Daoud, Aida; Lampkin, Beatrice C.; Limouze, Susan; Donofrio, James C.; Colemán, Mary Sue; Hutton, John J.

doi:10.1016/0090-1229(79)90157-0

Cited by 21 publications

(10 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Children remained free of infection for up to 2 years and showed an improvement in lymphocyte numbers and function. 22,23 Metabolic derangements were also seen to normalize with an increase in ADA activity, reduction in adenosine and deoxyadenosine levels and a decrease in erythrocyte dATP. [23][24][25] However, these improvements proved to be transient and dependent on regular transfusions.…”

Section: Red Cell Transfusionsmentioning

confidence: 96%

“…22,23 Metabolic derangements were also seen to normalize with an increase in ADA activity, reduction in adenosine and deoxyadenosine levels and a decrease in erythrocyte dATP. [23][24][25] However, these improvements proved to be transient and dependent on regular transfusions. 25 Long-term transfusion therapy carries with it certain risks including iron overload, exposure to potential blood borne viral pathogens and the trauma of repeated cannulation and time in hospital.…”

Section: Red Cell Transfusionsmentioning

confidence: 96%

See 1 more Smart Citation

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

Gaspar¹

2009

BTT

View full text Add to dashboard Cite

Section: Red Cell Transfusionsmentioning

confidence: 96%

Section: Red Cell Transfusionsmentioning

confidence: 96%

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

Gaspar¹

2009

BTT

View full text Add to dashboard Cite

“…Since then he has grown less well. Clinical and immunological details ofhis illness have been presented (12). The patient's bone marrow has remained megaloblastic despite enzyme replacement coupled with the parenteral administration of vitamin B12 and folinic acid.…”

Section: Methodsmentioning

confidence: 99%

“…If transfusions were to be administered, blood was drawn for laboratory studies before transfusion. Nucleosides were extracted from urine with cold 60% methanol (12) and from plasma with barium hydroxide-zinc sulfate (17). Pellets of frozen cells (2-7 x 106 nucleated cells or 1-2 x 109 erythrocytes) were extracted with 1 ml of cold 60% methanol (12).…”

Section: Methodsmentioning

confidence: 99%

“…Transfusion of these cells to ADA-deficient children partially corrects the metabolic abnormalities observed in plasma, urine, and blood cells (4)(5)(6)(10)(11)(12)(13)(14), although evaluation of data is difficult because of the failure of some laboratories to distinguish ribo-and deoxyribonucleotides. Improvement in immunological status occurs in approximately one-half of treated patients (2).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Biochemical and Functional Abnormalities in Lymphocytes from an Adenosine Deaminase-deficient Patient during Enzyme Replacement Therapy

Hutton¹,

Wiginton²,

Colemán³

et al. 1981

J. Clin. Invest.

Self Cite

View full text Add to dashboard Cite

A B S T R A C T Biochemical and immunological prop-the patient's erythrocytes and lymphocytes. Transfusion of irradiated packed erythrocytes partially corrects the metabolic defects. Frank metabolic relapse occurs if transfusions are discontinued for several months. The amounts of dATP in erythrocytes and lymphocytes averaged 13 and 2 times normal, respectively, during periods when transfusions were administered every 2-4 wk. Deoxyguanosine triphosphate and deoxycytidine triphosphate in lymphocytes were normal on 11 occasions, but deoxyribosylthymine triphosphate was ninefold increased. On 11 occasions dATP was measured in lymphocytes and erythrocytes isolated simultaneously. There was a positive, but statistically insignificant, correlation between amounts of dATP in the two types of cells (r = 0.25, P > 0.1). The absolute peripheral lymphocyte count was correlated with the activity of ADA in circulating erythrocytes and with the response of lympho-

show abstract

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA – patients with severe combined immunodeficiency (ADA – SCID)

Hirschhorn¹,

Ellenbogen²,

Tzall³

1992

Am. J. Med. Genet.

View full text Add to dashboard Cite

Severe combined immunodeficiency (SCID) is a heterogeneous syndrome, due to X-linked and autosomal recessive defects. A significant proportion of the autosomal recessive forms of SCID are due to mutations at the adenosine deaminase (ADA) locus. Nine different mutations at the ADA locus, including 7 missense point mutations, have been reported in children with ADA-SCID. We could detect 5 of the 7 missense mutations associated with ADA-SCID by alterations in restriction fragments utilizing standard restriction digestion of genomic DNA and hybridization of radiolabelled ADA genomic probes to Southern transfers. We additionally developed more rapid nonradioactive methods employing digestion of genomic DNA amplified by PCR that also detected all 5 mutations. Using these methods, we have examined a sample of 45 ADA-SCID chromosomes and report that these 5 missense mutations account for one third of the ADA--chromosomes studied, with 2 mutations being relatively common.

show abstract

Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease

Cited by 21 publications

References 42 publications

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

Biochemical and Functional Abnormalities in Lymphocytes from an Adenosine Deaminase-deficient Patient during Enzyme Replacement Therapy

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA – patients with severe combined immunodeficiency (ADA – SCID)

Contact Info

Product

Resources

About