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234 results

  1. ... topic><related-topic >Vaccines</related-topic><see-reference >Chronic Granulomatous Disease</see-reference><see-reference >Primary Immunodeficiency Diseases</see-reference><see- ...
  2. ... NCF2 database NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox NCF2 NCF2 NCF4 22q12 ​.3 Neutrophil cytosol factor 4 NCF4 NCF4 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. ... NCF1 database NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox NCF1 NCF1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  4. ... Allergy and Infectious Diseases) Clinical Trials ClinicalTrials.gov: Granulomatous ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  5. ... candidiasis Systemic lupus erythematosis Bruton type aggammaplobulinemia Progerila ... 11/131 5/7 3/3 See reference 21, Considered low if below the range of ...
  6. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease</url><title >Chronic granulomatous disease</title><other_names >< ...
  7. ... NP_001805 ​.4 Hart et al [2000] CYBA Chronic granulomatous disease AR c.171dupG p.Lys58GlufsTer155 ~100% 3 Unknown ... 005957 ​.5 Ben-Shachar et al [2012] NCF1 Chronic granulomatous disease AR c.579G>A p.Trp193Ter 96% 1/ ...
  8. ... no.2 1992. Before 1970, children born with chronic granulomatous disease (an inherited disease of the immune system) often ... reduces by 70 percent the life-threatening infections chronic granulomatous disease patients must face. Treated with this drug, these ...
  9. ... errors of immunity and selected disorders such as chronic granulomatous disease , Wiskott-Aldrich syndrome, and DiGeorge syndrome (see 22q11. ... cytopenia Bode et al [2015] CYBB CYBB -related chronic granulomatous disease XL Abscesses, colitis, mycosis Bode et al [2015] ...
  10. ... known X-linked disorders such as retinitis pigmentosa , chronic granulomatous disease , and McLeod red cell phenotype (see McLeod neuroacanthocytosis ... male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum ...
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