Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects | Zendy

Anil A. Panackal | Zendy; Lindsey B. Rosen | Zendy; Gülbû Uzel | Zendy; Michael J. Davis | Zendy; Guowu Hu | Zendy; Adebowale Adeyemo | Zendy; Fasil TekolaAyele | Zendy; Andrea Lisco | Zendy; Christopher Diachok | Zendy; Jonathan Kim | Zendy; Dawn Shaw | Zendy; Irini Sereti | Zendy; Jennifer Stoddard | Zendy; Julie E. Niemela | Zendy; Sergio D. Rosenzweig | Zendy; John E. Bennett | Zendy; Peter R. Williamson | Zendy

Open Access

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

Author(s) -

Anil A. Panackal,

Lindsey B. Rosen,

Gülbû Uzel,

Michael J. Davis,

Guowu Hu,

Adebowale Adeyemo,

Fasil TekolaAyele,

Andrea Lisco,

Christopher Diachok,

Jonathan Kim,

Dawn Shaw,

Irini Sereti,

Jennifer Stoddard,

Julie E. Niemela,

Sergio D. Rosenzweig,

John E. Bennett,

Peter R. Williamson

Publication year - 2017

Publication title -

open forum infectious diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.546

H-Index - 35

ISSN - 2328-8957

DOI - 10.1093/ofid/ofx082

Subject(s) - medicine , asymptomatic , immunology , meningoencephalitis , germline , cryptococcus neoformans , pathology , genetics , biology , gene

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-κβ 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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