Sensorineural deafness in siblings with adenosine deaminase deficiency

Tanaka, Chitose; Hara, Toshiro; Suzaki, Ichiro; Maegaki, Yoshihiro; Takeshita, Kenzo

doi:10.1016/0387-7604(96)00014-9

Cited by 21 publications

(19 citation statements)

References 7 publications

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“…In particular, no difference in audiologic outcome was seen between patients who received pretransplant preparative therapy (patients 10 and 11) and patients who did not (patients 2, 6,7,9,12). The level of dATP on diagnosis of ADA-SCID is indicative of the degree of metabolic derangement and has been previously been shown to correlate with severity of immunologic and nonimmunologic manifestations, 11 but in this study, no relationship between deafness and dATP level was found.…”

Section: Resultscontrasting

confidence: 76%

“…Although the hearing of these patients may have potentially been affected by cytoablative or ototoxic drugs given during their treatment, it is unlikely that such a high incidence would be found. In this study, nine of 12 patients did not receive any chemotherapy before transplant, and in the previous report of deafness in siblings with ADA-SCID, 12 cytotoxic conditioning drugs and ototoxic anti-infective drugs were not given, and viral, structural, and familial factors were not present. The data from our study would therefore suggest that bilateral high-frequency sensorineural hearing loss is another systemic manifestation of ADA deficiency.…”

Section: Discussionmentioning

confidence: 62%

See 1 more Smart Citation

Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency

Albuquerque

Gaspar

2004

The Journal of Pediatrics

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Section: Resultscontrasting

confidence: 76%

Section: Discussionmentioning

confidence: 62%

Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency

Albuquerque

Gaspar

2004

The Journal of Pediatrics

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“…5 In a further report, 2 siblings with ADA deficiency were found to have sensorineural hearing deficit. 6 Because complications from infections usually predominate in the clinical presentation of infants with ADA deficiency, the full spectrum of nonimmunologic manifestations of the disorder and their natural course may be obscured.…”

Section: Introductionmentioning

confidence: 99%

Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications

Hönig

Albert

Schulz

et al. 2006

Blood

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Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that causes an autosomal recessive variant of severe combined immunodeficiency (SCID) and less consistently other complications including neurologic abnormalities. Hematopoietic stem cell transplantation (HSCT) is able to correct the immunodeficiency, whereas control of nonimmunologic complications has not been extensively explored. We applied HSCT in 15 ADA-deficient patients consecutively treated at our institutions since 1982 and analyzed long-term outcome.

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“…There was no difference in IQ with use of MAC vs RIC vs no conditioning, however, this was a small study with a limited number of SCID patients, and reflects patients treated several decades ago (51). Hearing loss is common in ADA SCID (52) and an ADA patient was reported to develop hearing loss even after a successful unconditioned HCT (53). Finally, ADA patients have a higher rate of multicentric dermatofibrosarcoma protuberans (a rare form of skin tumors) than the general population even after HCT (54).…”

Section: Phenotype and Genotype Impact On Late Effects (Table 2)mentioning

confidence: 99%

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT

Heimall

Puck

Buckley

et al. 2017

Biology of Blood and Marrow Transplantation

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Severe Combined Immunodeficiency (SCID) is one of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency (PID). Historically, SCID was diagnosed in infants who presented with opportunistic infections within the first year of life. With newborn screening (NBS) for SCID in most of the U.S., the majority of infants with SCID are now diagnosed and treated in the first 3.5 months of life, although in the rest of the world, the lack of NBS means that most infants with SCID still present with infections. The average survival for transplanted SCID patients currently is >70% at 3 years post-transplant, although this can vary significantly based on multiple factors including age and infection status at the time of transplantation, type of donor source utilized, manipulation of graft prior to transplant, GVHD prophylaxis, type of conditioning (if any) utilized and underlying genotype of SCID. In at least one study of SCID patients who received no conditioning, long-term survival was 77% at 8.7 years (range out to 26 years) post-transplantation. While a majority of patients with SCID will engraft T cells without any conditioning therapy, depending on genotype, donor source, HLA match and presence of circulating maternal cells a sizable percentage of these will fail to achieve full immune reconstitution. Without conditioning, T cell reconstitution typically occurs, although not always fully, while B cell engraftment does not—leaving some molecular types of SCID patients with intrinsically defective B cells in most cases dependent on regular infusions of immunoglobulin. Because of this, many centers have used conditioning with alkylating agents including busulfan or melphalan known to open marrow niches in attempts to achieve B cell reconstitution. Thus, it is imperative that we understand the potential late effects of these agents in this patient population. There are also non-immunologic risks associated with HCT for SCID that appear to be dependent upon the genotype of the patient. In this report we have evaluated the published data on late effects and attempted to summarize the known risks associated with conditioning and alternative donor sources. These data, while informative, are also a clear demonstration that there is still much to be learned from the SCID population in terms of their post-HCT outcomes. This paper will summarize current findings and recommend further research in areas considered high priority. Specific guidelines regarding a recommended approach to long-term follow up, including laboratory and clinical monitoring will be forthcoming in a subsequent paper.

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Sensorineural deafness in siblings with adenosine deaminase deficiency

Cited by 21 publications

References 7 publications

Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency

Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency

Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications

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