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56 results
  1. ... founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Ann ...
  2. ... founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Ann ...
  3. ... Combined immunodeficiency due to PGM3 deficiency, see PGM3-congenital disorder of glycosylation Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, see Spondyloenchondrodysplasia with ...
  4. ... Gaspar HB. Short limbed skeletal dysplasia associated with combined immunodeficiency and congenital subglottic stenosis: a new constellation of features. Clin ...
  5. ... such as thalassemia) Immune-system disorders (such as congenital neutropenia and severe-combined immunodeficiency syndrome)
  6. ... include such individuals. Immunodeficiency Severe immunodeficiency states, including congenital immunodeficiencies such as agammaglobulinaemia and severe combined immune deficiency, are rare conditions and their management ...
  7. ... 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 ...
  8. ... due to JAK3 deficiency, see JAK3-deficient severe combined immunodeficiency T-cell immunodeficiency, congenital alopecia, and nail dystrophy T1D, see Type 1 ...
  9. ... 1), see Pachyonychia congenita Jaeken syndrome, see PMM2-congenital disorder of glycosylation JAK3 SCID, see JAK3-deficient severe combined immunodeficiency JAK3-deficient severe combined immunodeficiency Jankovic-Rivera syndrome, ...
  10. ... adenosine deaminase deficiency, see Adenosine deaminase deficiency Severe combined immunodeficiency, HLA class II-negative, see Bare lymphocyte syndrome type II Severe congenital encephalopathy due to MECP2 mutation, see MECP2-related ...
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