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64 results
  1. Nitroblue tetrazolium blood test 
    https://medlineplus.gov/ency/article/003355.htm
    This test is done to screen for chronic granulomatous disease . This disorder is passed down in families. In people who have this disease, certain immune cells do not help protect the body from ...
  2. Familial Hemophagocytic Lymphohistiocytosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1444
    ... 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] ...
  3. Williams Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1249
    ... presumably autosomal recessive syndrome [ Cummings & Starr 2023 ]. NCF1 Chronic granulomatous disease (CGD) Biallelic pathogenic variants cause autosomal recessive CGD, ...
  4. Dystrophinopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1119
    ... 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 ...
  5. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... may have two life-threatening diseases – X-linked chronic granulomatous disease and OTC deficiency – as well as additional diseases ...
  6. xmlmplus_topics_2025-06-06.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-06-06.xml
    ... topic><related-topic >Vaccines</related-topic><see-reference >Chronic Granulomatous Disease</see-reference><see-reference >Primary Immunodeficiency Diseases</see- ...
  7. X-Linked Severe Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1410
    ... immunodeficiency [OMIM 300291 ]), IPEX (autoimmunity, polyendocrinopathy, enteropathy) syndrome, chronic granulomatous disease , and properdin deficiency (OMIM 312060 ). Management Management is ...
  8. Nitroblue tetrazolium test (image) 
    https://medlineplus.gov/ency/imagepages/9697.htm
    ... This test is performed as a screen for chronic granulomatous disease (CGD). If an individual has CGD, the white ...
  9. Excluded Studies at Full Text - Transitions of Care From Pediatric to Adult Services for Children With Special ... 
    https://www.ncbi.nlm.nih.gov/books/NBK591518
    ... Pediatric to Adult Care by Young Adults With Chronic Granulomatous Disease: The Patient’s Viewpoint. J Adolesc Health. 2017 ...
  10. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK558237
    ... NP_004928 ​.2 Rupar et al [2001] CYBB Chronic granulomatous disease XL c.1335C>A p.Cys445Ter ~100% 4 ...
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