Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2015 Jun;100(6):e216-9.
doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13.

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Baran Erman  1 , Ivan Bilic  2 , Tatjana Hirschmugl  2 , Elisabeth Salzer  2 , Deniz Çagdas  3 , Saliha Esenboga  3 , Zuhal Akcoren  4 , Ozden Sanal  3 , Ilhan Tezcan  3 , Kaan Boztug  5
Affiliations
Case Reports

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Baran Erman et al. Haematologica. 2015 Jun.
No abstract available

Keywords: CD4 lymphopenia; IL21R; combined immunodeficiencies; loss-of-function mutation; sclerosing cholangitis.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Clinical, immunological and functional phenotype of the IL21R-deficient patient. (A) Hematoxylin & Eosin staining of the duodenal biopsy displaying cyptosporidium parasites attached to the epithelial surface. (B) Intracellular flow cytometry analysis of the STAT3 phosphorylation in CD4+ T cells after stimulation with IL10 (50 ng/ml) and IL21 (10 ng/mL), respectively. (C) Flow cytometry analysis of CD4+ and CD8+ T-cell populations in PBMCs. (D) Proliferation analysis of PBMCs four days after stimulation with anti-CD3 and anti-CD28 antibodies detected by monitoring dilution of the violet proliferation dye (VPD). The percentages of cells in the respective gates are indicated in the plots. Bottom panel: the numbers above the indicated gates refer to the number of divisions. (E) Analysis of naïve and memory (top), and CD31+CD45RA+ recent thymic emigrants (bottom) within the CD4+ T-cell population. (F) Analysis of CXCR5+CD45RA− TFH cells from the IL21R-deficient patient and a healthy adult control. HD: healthy adult donor.
Figure 2.
Figure 2.
Phenotypic analysis of IL21R-deficicent B- and NK-cell populations. (A) Flow cytometry analysis of patient’s and healthy adult donor’s naïve and memory B-cell populations gated on CD19+ B cells. The percentages of cells in the respective quadrants are indicated. (B) Analysis of immature transitional B cells from the patient and a healthy adult control defined by the surface expression of CD10 and CD38 after gating on CD19+ B cells. (C) Identification (top) and maturation analysis (bottom) of CD56+CD3− NK cells from the patient and a healthy adult control. The percentages of cells in the respective quadrants are indicated.
See this image and copyright information in PMC

References

    1. Salzer E, Kansu A, Sic H, et al. Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clinical Immunol. 2014;133(6):1651–1659e12. - PubMed
    1. Kotlarz D, Zietara N, Milner JD, Klein C. Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency. Curr Opin Pediatr. 2014;26(6):704–712. - PubMed
    1. Kotlarz D, Zietara N, Uzel G, et al. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med. 2013;210(3):433–443. - PMC - PubMed
    1. Parrish-Novak J, Foster DC, Holly RD, Clegg CH. Interleukin-21 and the IL-21 receptor: novel effectors of NK and T cell responses. J Leukoc Biol. 2002;72(5):856–863. - PubMed
    1. Ettinger R, Sims GP, Fairhurst AM, et al. IL-21 induces differentiation of human naive and memory B cells into antibody-secreting plasma cells. J Immunol. 2005;175(12):7867–7879. - PubMed

MeSH terms

Substances