![]() Left untreated, the cellular and humoral immune deficiency results in life-threatening community acquired and opportunistic infections, as well as extra-immune complications, including pulmonary alveolar proteinosis, 7-9 neurologic and neurocognitive deficits, 10-12 sensorineural hearing loss, 13,14 neutropenia and myeloid dysplasia, 15-17 skeletal dysplasia, 18,19 hepatic dysfunction, 20,21 and malignant tumors. ![]() 6 ADA-deficient lymphocytes are particularly sensitive to these effects, leading to profound T-cell, B-cell, and natural killer (NK)-cell lymphopenia. 3-5 Excessive dAXP inhibits ribonucleotide reductase, blocks DNA synthesis and repair, and induces DNA breaks. 1,2 Absence of ADA activity results in adenosine and 2′-deoxyadenosine, along with their deoxyadenosine phosphorylated derivatives (dAXP), accumulating in multiple tissues. For CME questions, see page 795.ĭeficiency of the purine catabolic enzyme adenosine deaminase (ADA) is the cause for ∼13% of cases of severe combined immune deficiency (SCID). To participate in this journal CME activity: (1) review the learning objectives and author disclosures (2) study the education content (3) take the post-test with a 75% minimum passing score and complete the evaluation at and (4) view/print certificate. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.Īll other clinicians completing this activity will be issued a certificate of participation. Participants will earn MOC points equivalent to the amount of CME credits claimed for the activity. Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.0 MOC points in the American Board of Internal Medicine’s (ABIM) Maintenance of Certification (MOC) program. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Medscape, LLC designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit(s) ™. Medscape, LLC is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. In support of improving patient care, this activity has been planned and implemented by Medscape, LLC and the American Society of Hematology. This trial was registered at as #NCT01186913 and #NCT01346150. This suggests alternative donor HCT may be considered when MSD/MFD HCT and GT are not available, particularly when newborn screening identifies patients with ADA-SCID soon after birth and before the onset of infections. For patients treated after the year 2000 and without active infection at the time of FDCT, no difference in 5-year EFS or OS was found between HCT using a variety of transplant approaches and ERT-GT. Five-year EFS (90.5%) and OS (100%) were best for matched sibling and matched family donors (MSD/MFD). Active infection at the time of HCT (regardless of ERT) decreased 5-year EFS (33.1% vs 68.2%, P <. Five-year OS was superior for patients undergoing HCT at <3.5 months of age (91.6% vs 68% if ≥3.5 months, P =. Overall survival (OS) at 5 years after FDCT was 72.5% (HCT), 79.6% (ERT-HCT), and 100% (ERT-GT P =. Five-year event-free survival (EFS, alive, no need for further ERT or cellular therapy) was 49.5% (HCT), 73% (ERT-HCT), and 75.3% (ERT-GT P <. First definitive cellular therapy (FDCT) included 56 receiving HCT without preceding ERT (HCT) 31 HCT preceded by ERT (ERT-HCT) and 33 GT preceded by ERT (ERT-GT). Baseline clinical, immunologic, genetic characteristics, and treatment outcomes were analyzed. We evaluated 131 patients with ADA-SCID diagnosed between 19 who were enrolled in the Primary Immune Deficiency Treatment Consortium SCID studies. Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). ![]() doi: Īdenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Kohn Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC. Dávila Saldaña, Kenneth DeSantes, Hesham Eissa, Frederick D. ![]() Bednarski, Sharat Chandra, Shanmuganathan Chandrakasan, Alfred P. Burroughs, Aleksandra Petrovic, Deepak Chellapandian, Jennifer Heimall, David C. ![]() O’Reilly, Neena Kapoor, Sung-Yun Pai, Malika Kapadia, Christen L. Griffith, Xuerong Liu, Alison Yip, Michael S. ![]()
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