Immunodeficiencies

• IL7R-associated SCID
  16 June 2011

  IL7R-associated SCID is a T-, B+, NK+ SCID (MIM.608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (MIM.151460) on 1q31-q32, or the CD3D gene (MIM.186790) on 11q23.
  See also
  severe combined immunodeficiency (SCID) recessive SCID JAK3-associated SCID IL7R-associated SCID T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13.11 (ADA-associated SCID) T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis (...)

• JAK3-associated SCID
  16 June 2011

  T-, B+, NK- SCID (MIM. 600802) caused by mutation in the JAK3 gene (MIM.600173)
  See also
  severe combined immunodeficiency (SCID) recessive SCID JAK3-associated SCID T-, B+, NK+ SCID (608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (151460) on 1q31-q32, or the CD3D gene (186790) on 11q23 (IL7R-associated SCID) T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13.11 (ADA-associated SCID) T-, B-, NK+ SCID with sensitivity to ionizing (...)

• autosomal recessive SCID
  16 June 2011

  autosomal recessive SCIDs

• RAGs-associated SCID
  16 June 2011

  RAG1-associated SCID; RAG2-associated SCID; SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE

• IL2RG-associated SCID
  16 June 2011

  X-linked SCID; SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE; SCIDX; XSCID; SCID, X-LINKED; IMMUNODEFICIENCY 4; IMD4, SCIDX1

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