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287 results
  1. Bone-marrow transplant - series (image) 
    https://medlineplus.gov/ency/presentations/100112_1.htm
    ... such as thalassemia) Immune-system disorders (such as congenital neutropenia and severe-combined immunodeficiency syndrome)
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... text-role><html ><html:p >T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized ...
  3. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Combined Immunodeficiency C16.614.815.500 X-Linked Combined Immunodeficiency Diseases C16.614.868 Syphilis, Congenital C16.614.890 Thanatophoric Dysplasia C16.614.899 ...
  4. Immune System and Disorders 
    https://medlineplus.gov/immunesystemanddisorders.html
    Your immune system is made up of cells, tissues, and organs that fight infections and diseases. Learn how it works, and about diseases of the immune system.
  5. Familial Hemophagocytic Lymphohistiocytosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1444
    ... 2019] AD = autosomal dominant; AR = autosomal recessive; CDG = congenital disorders of glycosylation; DiffDx = differential diagnosis; Mat = maternal; MOI = mode of inheritance; XL = X-linked 1. See X-Linked Severe Combined Immunodeficiency , Table 3 for other genes known to be ...
  6. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... AK2P1 AK2P2 Reticular dysgenesis (See X-Linked Severe Combined Immunodeficiency .) 100% ALG1 ≥8 pseudogenes ALG1 -CDG (CDG-type Ik) (See Congenital Disorders of N-linked Glycosylation & Multiple Pathway Overview .) ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... pgm3-congenital-disorder-of-glycosylation</url><title >PGM3-congenital ... immunodeficiency due to PGM3 deficiency</other_name><other_name > ...
  8. EPG5-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584989
    ... F, Fiorilli M. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, ... GF, Jungbluth H, Sahin M. Congenital disorders of autophagy: an emerging novel class of ...
  9. Schimke Immunoosseous Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1376
    ... Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. ... immunodeficiency. Blood Adv. 2021; 5 :2153–55. [ PMC ...
  10. Newborn Screening 
    https://medlineplus.gov/newbornscreening.html
    Your newborn infant has screening tests before leaving the hospital. Get the facts about these tests and what you should expect. ... Your newborn infant has screening ...
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