Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency

Grunebaum, Eyal; Cutz, Ernest; Roifman, Chaim M.

doi:10.1016/j.jaci.2012.02.003

Cited by 76 publications

(44 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…ADA deficiency can cause pulmonary alveolar proteinosis and inflammatory liver disease, which may respond to PEG-ADA therapy. [13][14][15][16] In addition to the high financial cost ($100 000-$300 000 per year, depending on the dose), the aforementioned comorbid conditions make it important to consider potentially curative treatment with HSCT or GT whenever possible. 7,8,17,18 …”

Section: Figurementioning

confidence: 99%

A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient

2016

View full text Add to dashboard Cite

Severe combined immunodeficiency (SCID) is a fatal childhood disease unless immune reconstitution is performed early in life, with either hematopoietic stem cell transplantation or gene therapy. One of its subtypes is caused by adenosine deaminase (ADA) enzyme deficiency, which leads to the accumulation of toxic metabolites that impair lymphocyte development and function. With the development of polyethylene glycol–conjugated adenosine deaminase (PEG-ADA) enzyme replacement therapy, many ADA-deficient children with SCID who could not receive a hematopoietic stem cell transplantation or gene therapy survived and had longer and healthier lives. We report a 24-year course of treatment in a patient who was diagnosed with ADA deficiency at 4 months of age. The patient was treated with PEG-ADA, which was the only therapy available for him. The patient’s plasma ADA level was regularly monitored and the PEG-ADA dose adjusted accordingly. This treatment has resulted in near-normalization of lymphocyte counts, and his clinical course has been associated with only minor to moderate infections. Thus far, he has had no manifestations of autoimmune or lymphoproliferative disorders. This patient is among the longest to be maintained on PEG-ADA enzyme replacement therapy.

show abstract

Section: Figurementioning

confidence: 99%

A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient

2016

View full text Add to dashboard Cite

show abstract

“…ADA is ubiquitously expressed; therefore, it is not surprising that impaired ADA activity also disrupts many other cells, tissues, and organs including hepatocytes, chondrocytes, osteoblasts, alveolar macrophages, etc. (Bollinger et al 1996;Grunebaum et al 2012). ADA deficiency can also affect patients' bone marrow (Sokolic et al 2011) and kidneys (Ratech et al 1985).…”

Section: Introductionmentioning

confidence: 99%

Atypical hemolytic-uremic syndrome in a patient with adenosine deaminase deficiency

et al. 2015

Self Cite

View full text Add to dashboard Cite

Inherited defects in the ubiquitous adenosine deaminase (ADA) enzyme disrupt the function of the immune system as well as many other organs and tissues. Some patients may also suffer from kidney damage. Here we report on an ADA-deficient patient who was treated with ADA replacement therapy from infancy and at 6 years of age developed acute kidney failure, thrombocytopenia, and severe anemia. A kidney biopsy demonstrated mesangiolysis and occlusion of kidney loops by erythrocytes and platelet aggregates, which is consistent with hemolytic-uremic syndrome (HUS). There was no evidence of exposure to Shiga toxins, nor were any complement abnormalities detected. The kidney function improved following hemodialysis. Our report demonstrates the increased susceptibility of ADA-deficient patients to develop HUS and expands the nonimmune abnormalities associated with ADA deficiency. This further emphasizes the vigilance required when caring for such patients. Statement of novelty:Here we provide the first detailed clinical and histological characterization of hemolyticuremic syndrome developing in an ADA-deficient patient.

show abstract

“…42 Noninfectious lung disease may occur in adenosine deaminase-deficient (ADA) SCID. 43,44 One group compared respiratory symptoms, radiological findings, and microbiological findings in a cohort of 21 patients with ADA-SCID to 19 patients with X-linked SCID. They found that both groups…”

Section: Combined T-and B-cell Immunodeficienciesmentioning

confidence: 99%

“…43 Pulmonary alveolar proteinosis (PAP) has recently been described in a group of 7 out of 16 patients with ADA-SCID. 44 The 16 patients with ADA-SCID were compared to a control group of 22 patients with SCID secondary to other genetic defects, and PAP was found only in the ADA-SCID group 44 PAP is a rare lung disease caused by abnormal surfactant accumulation resulting in respiratory insufficiency/failure. 45,46 PAP is characterized by the accumulation of surfactant-derived lipoproteins within pulmonary alveolar macrophages and alveoli due to a disruption of GM-CSF signaling.…”

mentioning

confidence: 99%

“…Six of the 7 patients showed rapid (2 to 4 weeks) and complete clinical and radiological resolution of PAP. 44 DiGeorge anomaly (DGA) is a genetic disorder leading to defective development of the third and fourth pharyngeal pouches. This field defect can result in facial dysmorphia characterized by posteriorly rotated ears, malformed pinnae, micrognathia, hooded eyelid, bulbous tip of the nose, velopharyngeal defects, conotruncal heart defects, hypocalcemia secondary to hypoparathyroidism, and T-and B-cell defects secondary to hypoplasia or aplasia of the thymus gland.…”

mentioning

confidence: 99%

See 1 more Smart Citation