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...


Major Histocompatibility Complex Hematopoietic Stem Cell Transplantation Major Histocompatibility Complex Class Primary Immunodeficiency Renal Tubular Acidosis 
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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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