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Partial adenosine deaminase deficiency

MedGen UID:
350862
•Concept ID:
C1863239
•
Disease or Syndrome
Synonym: PARTIAL ADA DEFICIENCY
 
OMIM®: 102700; 608958

Professional guidelines

PubMed

Updated Management Guidelines for Adenosine Deaminase Deficiency.
Grunebaum E, Booth C, Cuvelier GDE, Loves R, Aiuti A, Kohn DB
J Allergy Clin Immunol Pract 2023 Jun;11(6):1665-1675. Epub 2023 Feb 1 doi: 10.1016/j.jaip.2023.01.032. PMID: 36736952
Hematopoietic stem cell transplant for the treatment of adenosine deaminase-deficient severe combined immune deficiency.
Kuo CY
Ann Allergy Asthma Immunol 2021 May;126(5):449-450. doi: 10.1016/j.anai.2021.02.005. PMID: 33941315
Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.
Kisla Ekinci RM, Balci S, Hershfield M, Bisgin A, Dogruel D, Altintas DU, Yilmaz M
Rheumatology (Oxford) 2020 Jan 1;59(1):254-256. doi: 10.1093/rheumatology/kez260. PMID: 31292637

Recent clinical studies

Etiology

Genetic and biochemical consequences of adenosine deaminase deficiency in humans.
Bose R, Nandagopal K
Indian J Biochem Biophys 2013 Oct;50(5):345-56. PMID: 24772956

Diagnosis

Genetic and biochemical consequences of adenosine deaminase deficiency in humans.
Bose R, Nandagopal K
Indian J Biochem Biophys 2013 Oct;50(5):345-56. PMID: 24772956
A phenotypically normal revertant of an adenosine deaminase-deficient lymphoblast cell line.
Uberti J, Peterson WD Jr, Lightbody JJ, Johnson RM
J Immunol 1983 Jun;130(6):2866-70. PMID: 6854019

Clinical prediction guides

Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines.
Daddona PE, Davidson BL, Perignon JL, Kelley WN
J Biol Chem 1985 Mar 25;260(6):3875-80. PMID: 3871777
A phenotypically normal revertant of an adenosine deaminase-deficient lymphoblast cell line.
Uberti J, Peterson WD Jr, Lightbody JJ, Johnson RM
J Immunol 1983 Jun;130(6):2866-70. PMID: 6854019

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