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Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Abstract：

:Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all clinical features of OS. Both carried homozygous germline mutations in CARD11 (p.Cys150*), impairing NF-κB signaling and IL-2 production. A somatic second-site mutation reverting the stop codon to a missense mutation (p.Cys150Leu) was detected in tissue-infiltrating T cells of the OS patient. Expression of p.Cys150Leu in CARD11-deficient T cells largely reconstituted NF-κB signaling. The reversion likely occurred in a prethymic T-cell precursor, leading to a chimeric T-cell repertoire. We speculate that in our patient the functional advantage of the revertant T cells in the context of persistent CMV infection, combined with lack of regulatory T cells, may have been sufficient to favor OS. This first observation of OS in a patient with a T-cell activation defect suggests that severely defective T-cell development or homeostatic proliferation in a lymphopenic environment are not required for this severe immunopathology.

journal_name

Blood

journal_title

Blood

authors

Fuchs S,Rensing-Ehl A,Pannicke U,Lorenz MR,Fisch P,Jeelall Y,Rohr J,Speckmann C,Vraetz T,Farmand S,Schmitt-Graeff A,Krüger M,Strahm B,Henneke P,Enders A,Horikawa K,Goodnow C,Schwarz K,Ehl S

doi

10.1182/blood-2015-03-631374

subject

Has Abstract

pub_date

2015-10-01 00:00:00

pages

1658-69

issue

14

eissn

0006-4971

issn

1528-0020

pii

blood-2015-03-631374

journal_volume

126

pub_type

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