MHC Class II deficiency (also known as bare lymphocyte syndrome type II) is a rare primary immunodeficiency disorder inherited in an autosomal recessive fashion resulting from the absence of MHC class II molecules on the surface of immune cells. Here, we report a now 18-month-old male born to consanguineous Mexican-American parents who presented at four months with pneumocystis pneumonia, and was subsequently found to have a novel homozygous mutation in leading to MHC Class II deficiency. He was successfully treated via hematopoietic stem cell transplantation from his matched sibling.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720537 | PMC |
| http://dx.doi.org/10.1007/s10875-015-0219-4 | DOI Listing |
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