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Journal of Clinical Immunology

, Volume 35, Issue 6, pp 521–522 | Cite as

Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity

  • Aisha Ahmed
  • Walter Reith
  • Jennifer M. Puck
  • Laurence E. ChengEmail author
Letter to Editor

Major histocompatibility complex (MHC) Class II deficiency is a rare primary immunodeficiency resulting in severely impaired cellular and humoral immunity [1]. Here, we report the case of a 14-year old Hispanic female with a novel mutation in the CIITA gene. She presented at 6 months of age with pneumonia due to Pneumocystis jiroveci. She had a notable family history of consanguinity and an older sibling that died in infancy from pneumonia.

Her immunologic evaluation at initial admission revealed low CD4+ T cell number, absent NK cells and elevated B cells. She also had absent serum concentrations of IgA and IgG, but detectable IgM. The patient was initially misclassified as combined immunodeficiency without a known genetic cause. The relevant immunological investigations at ages 6 months, 9 and 14 years are summarized in Table 1.
Table 1

Serial laboratory values relevant to the patient’s immunologic evaluation at 6 months, 9 years,and 14 years of age. All assays were performed through...

Keywords

Major Histocompatibility Complex Hematopoietic Stem Cell Transplantation Major Histocompatibility Complex Class Primary Immunodeficiency Renal Tubular Acidosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Aisha Ahmed
    • 1
  • Walter Reith
    • 2
  • Jennifer M. Puck
    • 1
  • Laurence E. Cheng
    • 1
    Email author
  1. 1.University of CaliforniaSan FranciscoUSA
  2. 2.University of GenevaGenevaSwitzerland

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