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19 results

  1. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... described in affected family members. MLPH MYO5A RAB27A Griscelli syndrome (GS) (OMIM PS214450 ) AR Mild skin hypopigmentation & silvery- ... Henter JI. Treatment of the X-linked lymphoproliferative, Griscelli and Chediak-Higashi syndromes by HLH directed therapy. Pediatr Blood Cancer. 2009; ...
  2. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... partial" OCA. Immunodeficiency & bleeding diathesis MLPH MYO5A RAB27A Griscelli syndrome(GS) (OMIM PS214450 ) <1% Skin hypopigmentation w/characteristic ... in OCA may not be present. See Waardenburg Syndrome Type I . 3. Differential Diagnosis of Ocular Findings in Oculocutaneous Albinism and Ocular ...
  3. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... Buchbinder D, Nugent DJ, Fillipovich AH. Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. ... PubMed : 22826711 ] Cavannaugh C, Ochs HD, Buchbinder D. ... of Wiskott-Aldrich syndrome: current and emerging techniques. Expert Rev Clin Immunol. ...
  4. X-Linked Lymphoproliferative Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1406
    ... often not identified in persons w/fHLH. RAB27A Griscelli syndrome type 2 (GS2) (OMIM 607624 ) AR Disorder of ... Primary immune regulatory disorders with an autoimmune lymphoproliferative syndrome-like phenotype: immunologic evaluation, early diagnosis and management. Front Immunol. 2021;12:671755. [ PMC ...
  5. Immune System and Disorders 
    https://medlineplus.gov/immunesystemanddisorders.html
    ... treated, it can lead to AIDS (acquired immunodeficiency syndrome). People with AIDS have badly damaged immune systems. They get an increasing number of severe illnesses.
  6. Trichohepatoenteric Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475802
    ... with Intractable Diarrhea to Consider in the Differential Diagnosis of Trichohepatoenteric Syndrome View in own window Disorder Gene MOI Distinguishing ...
  7. X-Linked Severe Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1410
    ... see Scenario 2 , Laboratory findings that support the diagnosis of atypical X-SCID . 2. Omenn syndrome is a clinical phenotype caused by immune dysregulation ...
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