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Title of Journal: J Clin Immunol

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Abbravation: Journal of Clinical Immunology

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Springer US

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DOI

10.1016/0303-2647(78)90008-4

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1573-2592

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Novel Mutation in the Class II Transactivator Asso

Authors: Aisha Ahmed Walter Reith Jennifer M Puck Laurence E Cheng
Publish Date: 2015/08/14
Volume: 35, Issue: 6, Pages: 521-522
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Abstract

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 14year 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

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