Combined Immunodeficiency and Inborn Errors of Purine Metabolism

Overview

Journal Blut

Specialty Hematology

Date 1978 Oct 13

PMID 359065

Citations 3

Authors

H J Meuwissen

B POLLARA

Affiliations

Soon will be listed here.

Citing Articles

Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy.

HUTTON J, Wiginton D, Coleman M, Fuller S, Limouze S, Lampkin B J Clin Invest. 1981; 68(2):413-21.

PMID: 7263861 PMC: 370813. DOI: 10.1172/jci110270.

Alterations in nucleotide content of human lung fibroblasts infected with Mycoplasma pneumoniae.

Upchurch S, Gabridge M Infect Immun. 1982; 38(2):631-6.

PMID: 6815098 PMC: 347786. DOI: 10.1128/iai.38.2.631-636.1982.

C-reactive protein, sialic acid and adenosine deaminase levels in serum and pleural fluid from patients with pleural effusion.

Kim J, Yang I, Oh E, Rhyoo Y, Jang Y, Ryang D Korean J Intern Med. 1988; 3(2):122-7.

PMID: 3154188 PMC: 4534954. DOI: 10.3904/kjim.1988.3.2.122.

References

Carson D, Seegmiller J . Effect of adenosine deaminase inhibition upon human lymphocyte blastogenesis. J Clin Invest. 1976; 57(2):274-82. PMC: 436651. DOI: 10.1172/JCI108278. View

Ackeret C, Lluss H, HITZIG W . Hereditary sever combined immunodeficiency and adenosine deaminase deficiency. Pediatr Res. 1976; 10(1):67-70. DOI: 10.1203/00006450-197601000-00013. View

Cohen A, Doyle D, Martin Jr D, Ammann A . Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. N Engl J Med. 1976; 295(26):1449-54. DOI: 10.1056/NEJM197612232952603. View

Burridge P, Paetkau V, HENDERSON J . Studies of the relationship between adenosine deaminase and immune function. J Immunol. 1977; 119(2):675-8. View

Mills G, Schmalstieg F, Trimmer K, Goldman A, Goldblum R . Purine metabolism in adenosine deaminase deficiency. Proc Natl Acad Sci U S A. 1976; 73(8):2867-71. PMC: 430780. DOI: 10.1073/pnas.73.8.2867. View

van Heukelom L, Staal G, Stoop J, Zegers B . An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity. Clin Chim Acta. 1976; 72(1):117-24. DOI: 10.1016/0009-8981(76)90042-5. View

Hong R, Gatti R, Rathbun J, GOOD R . Thymic hypoplasia and thyroid dysfunction. N Engl J Med. 1970; 282(9):470-4. DOI: 10.1056/NEJM197002262820903. View

Hirschhorn R, Beratis N, Rosen F, Parkman R, Stern R, Polmar S . Adenosine-deaminase deficiency in a child diagnosed prenatally. Lancet. 1975; 1(7898):73-5. DOI: 10.1016/s0140-6736(75)91075-2. View

Carson D, Kaye J, Seegmiller J . Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). Proc Natl Acad Sci U S A. 1977; 74(12):5677-81. PMC: 431856. DOI: 10.1073/pnas.74.12.5677. View

10.

Cederbaum S, Kaitila I, Rimoin D, Stiehm E . The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J Pediatr. 1976; 89(5):737-42. DOI: 10.1016/s0022-3476(76)80793-7. View

11.

Keightley R, Lawton A, Cooper M, Yunis E . Successful fetal liver transplantation in a child with severe combined immunodeficiency. Lancet. 1975; 2(7940):850-3. DOI: 10.1016/s0140-6736(75)90238-x. View

12.

Chassin M, Chirigos M, Johns D, Adamson R . Adenosine deaminase inhibition for immunosuppression. N Engl J Med. 1977; 296(21):1232. View

13.

POLMAR S, Stern R, Schwartz A, Wetzler E, Chase P, Hirschhorn R . Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. N Engl J Med. 1976; 295(24):1337-43. DOI: 10.1056/NEJM197612092952402. View

14.

Schmalstieg F, Nelson J, Mills G, Monahan T, Goldman A, Goldblum R . Increased purine nucleotides in adenosine deaminase-deficient lymphocytes. J Pediatr. 1977; 91(1):48-51. DOI: 10.1016/s0022-3476(77)80442-3. View

15.

Fox I, Andres C, Gelfand E, Biggar D . Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme. Science. 1977; 197(4308):1084-6. DOI: 10.1126/science.407651. View

16.

Virelizier J, Hamet M, Ballet J, Reinert P, Griscelli C . Impaired defense against vaccinia in a child with T-lymphocyte deficiency associated with inosine phosphorylase defect. J Pediatr. 1978; 92(3):358-62. DOI: 10.1016/s0022-3476(78)80419-3. View

17.

Parkman R, Gelfand E, Rosen F, Sanderson A, Hirschhorn R . Severe combined immunodeficiency and adenosine deaminase deficiency. N Engl J Med. 1975; 292(14):714-9. DOI: 10.1056/NEJM197504032921402. View

18.

Cohen A, Hirschhorn R, Horowitz S, Rubinstein A, POLMAR S, Hong R . Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. Proc Natl Acad Sci U S A. 1978; 75(1):472-6. PMC: 411272. DOI: 10.1073/pnas.75.1.472. View

19.

Hirschhorn R . Defects of purine metabolism in immunodeficiency diseases. Prog Clin Immunol. 1977; 3:67-83. View

20.

Wolberg G, Zimmerman T, Hiemstra K, Winston M, Chu L . Adenosine inhibition of lymphocyte-mediated cytolysis: possible role of cyclic adenosine monophosphate. Science. 1975; 187(4180):957-9. DOI: 10.1126/science.167434. View