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23 results
  1. Familial glucocorticoid deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../familial-glucocorticoid-deficiency
    ... but they typically do not show signs and symptoms of the condition. Other Names ... and adrenal insufficiency Genetic Testing Registry: Glucocorticoid ...
  2. Listing of Excluded Studies - Closing the Quality Gap: A Critical Analysis of Quality Improvement Strategies (Vol. 6: ... 
    https://www.ncbi.nlm.nih.gov/books/NBK43983
    ... Cerwenka H, Wolf G, Mischinger HJ. et al. Natural killer cell deficiency and severe wound infection after thyroid surgery. Eur ...
  3. DOCK8 immunodeficiency syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../dock8-immunodeficiency-syndrome
    ... ED, Orange JS. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2013 Mar;131(3): ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through food, is used by cells to process fats and produce energy.</html:p><html:p >Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and ...
  5. XIAP gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/xiap
    ... 10.1023/a:1011379307472. Citation on PubMed Latour S. Natural killer T ... AH. XIAP deficiency: a unique primary immunodeficiency best classified as X- ...
  6. Lymphoproliferative Disease, X-Linked - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1406
    ... Filipovich AH. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international ... populations. Clin Immunol. 2009; 132 :116–23. [ PMC ...
  7. X-linked lymphoproliferative disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease
    ... s12026-008-8048-7. Citation on PubMed Latour S. Natural killer T cells ... AH. XIAP deficiency: a unique primary immunodeficiency best classified as X- ...
  8. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... is associated with congenital heart defects (see Differential Diagnosis, ... function. SNAP29 pathogenic variants have been associated with ...
  9. JAK3-deficient severe combined immunodeficiency: MedlinePlus Genetics 
    https://medlineplus.gov/...eficient-severe-combined-immunodeficiency
    ... white blood cells (lymphocytes) called T cells and natural killer cells. In addition, the JAK3 protein is important for ... called B cells. T cells, B cells, and natural killer cells attack bacteria, viruses, and fungi, and help regulate ...
  10. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... i.e., no T-cell, B-cell, or natural killer-cell surface antigen expression) does occur. The World Health ... cell lymphoma, is rare in children. Mature T-cell/natural killer (NK)–cell lymphoma or peripheral T-cell lymphoma ...
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