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Quoted phrase not found in phrase index: "Pulmonary alveolar proteinosis with hypogammaglobulinemia"
Page 1
Adenosine deaminase deficiency: a review.
Flinn AM, Gennery AR. Flinn AM, et al. Orphanet J Rare Dis. 2018 Apr 24;13(1):65. doi: 10.1186/s13023-018-0807-5. Orphanet J Rare Dis. 2018. PMID: 29690908 Free PMC article. Review.
Whilst most notable affects are on lymphocytes, other manifestations include skeletal abnormalities, neurodevelopmental affects and pulmonary manifestations associated with pulmonary-alveolar proteinosis. Affected patients present in early infancy, usu …
Whilst most notable affects are on lymphocytes, other manifestations include skeletal abnormalities, neurodevelopmental affects and pulmo …
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.
Grunebaum E, Cutz E, Roifman CM. Grunebaum E, et al. J Allergy Clin Immunol. 2012 Jun;129(6):1588-93. doi: 10.1016/j.jaci.2012.02.003. Epub 2012 Mar 10. J Allergy Clin Immunol. 2012. PMID: 22409989
OBJECTIVES: We sought to characterize the frequency and features of pulmonary alveolar proteinosis (PAP) in patients with ADA deficiency. ...ADA coupled to polyethylene glycol or allogeneic hematopoietic stem cell transplantation rapidly corrected this pul …
OBJECTIVES: We sought to characterize the frequency and features of pulmonary alveolar proteinosis (PAP) in patients wi …
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Magg T, et al. Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. Sci Immunol. 2021. PMID: 34145065 Free PMC article.
We identified four de novo heterozygous OAS1 gain-of-function variants in six patients with a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypoga …
We identified four de novo heterozygous OAS1 gain-of-function variants in six patients with a polymorphic autoinflammatory immunodeficiency …
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM. Grunebaum E, et al. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. Curr Opin Allergy Clin Immunol. 2013. PMID: 24113229 Review.
Animal studies suggest that defects in surfactant metabolism by alveolar macrophages cause the pulmonary alveolar proteinosis commonly seen in ADA-deficient infants, while toxicity of purine metabolites to cerebellar Purkinje cells may lead to the atax …
Animal studies suggest that defects in surfactant metabolism by alveolar macrophages cause the pulmonary alveolar pr …
Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation.
Seidl E, Schramm D, Schön C, Reiter K, Pawlita I, Kappler M, Reu-Hofer S, Hauck F, Albert M, Griese M. Seidl E, et al. Pediatr Pulmonol. 2022 Jan;57(1):273-277. doi: 10.1002/ppul.25728. Epub 2021 Nov 15. Pediatr Pulmonol. 2022. PMID: 34647697
INTRODUCTION: Pulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfactant in the alveolar space. ...Recently, heterozygous OAS1 gain-of-function variants were described as cause in patients with infantile-onset PAP combined …
INTRODUCTION: Pulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfactant in the alveola …
Recurrent pulmonary alveolar proteinosis secondary to agammaglobulinemia.
Patiroglu T, Akyildiz B, Patiroglu TE, Gulmez IY. Patiroglu T, et al. Pediatr Pulmonol. 2008 Jul;43(7):710-3. doi: 10.1002/ppul.20818. Pediatr Pulmonol. 2008. PMID: 18496859
Pulmonary alveolar proteinosis (PAP) is characterized by the accumulation of surfactant derived material in the lung of patients. ...She had two pulmonary alveolary proteinosis attacks before. Chest X-ray showed bilateral diffuse infiltrates. .. …
Pulmonary alveolar proteinosis (PAP) is characterized by the accumulation of surfactant derived material in the lung of …
Bronchoalveolar lavage cytology in pulmonary alveolar proteinosis.
Burkhalter A, Silverman JF, Hopkins MB 3rd, Geisinger KR. Burkhalter A, et al. Am J Clin Pathol. 1996 Oct;106(4):504-10. doi: 10.1093/ajcp/106.4.504. Am J Clin Pathol. 1996. PMID: 8853040
Pulmonary alveolar proteinosis (PAP) is an uncommon disease in which alveoli are progressively filled with surfactant-related material. ...The patients include a 40-year-old man with an 8-year history of fever of unknown origin, a 30-year-old man with a chron …
Pulmonary alveolar proteinosis (PAP) is an uncommon disease in which alveoli are progressively filled with surfactant-r …