Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4(+) Lymphopenia and Secondary Germline or Acquired Defects.

Author:

Panackal, Anil A

Rosen, Lindsey B

Uzel, Gulbu

Davis, Michael J

Hu, Guowu

Adeyemo, Adebowale

Tekola-Ayele, Fasil

Lisco, Andrea

Diachok, Christopher

Kim, Jonathan D

Shaw, Dawn

Sereti, Irini

Stoddard, Jennifer

Niemela, Julie

Rosenzweig, Sergio D

Bennett, John E

Williamson, Peter R
Author Address

Laboratory of Clinical Infectious Diseases, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH)., Division of Infectious Diseases, Department of Medicine, F. Hebert School of Medicine, Uniformed Services University of the Health Sciences., Center for Research on Genomics and Global Health, National Human Genome Research Institute, NIH., Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland., Laboratory of Immunoregulation, DIR, NIAID, NIH., Leidos Biomedical Research, Inc., Frederick, Maryland., Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, Maryland.,

Abstract:

Idiopathic CD4(+) lymphopenia (ICL) predisposes to opportunistic infections (OIs) but can often remain asymptomatic and does not have a strong association with monogenic mutations. Likewise, cryptococcal meningoencephalitis, the most common OI in ICL, is not strongly associated with monogenic mutations. In this study, we describe 2 patients with ICL plus an additional immune defect: one from an E57K genetic mutation in the nuclear factor-?ß essential modulator, and the other with acquired autoantibodies to granulocyte-macrophage colony-stimulating factor. Thus, these cases may exemplify a "multi-hit model" in patients with ICL who acquire OIs.

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Author Address