scholarly journals Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

Blood ◽  
2008 ◽  
Vol 111 (1) ◽  
pp. 271-274 ◽  
Author(s):  
Ponpan Matangkasombut ◽  
Muriel Pichavant ◽  
Doris E. Saez ◽  
Silvia Giliani ◽  
Evelina Mazzolari ◽  
...  

Hypomorphic mutations of the RAG genes in humans are associated with a spectrum of clinical and immunologic presentations that range from T− B− severe combined immune deficiency (SCID) to Omenn syndrome. In most cases, residual V(D)J recombination activity allows for development of few T-cell clones, which expand in the periphery and infiltrate target organs, resulting in tissue damage. Invariant natural killer T (iNKT) cells play an important immunoregulatory role and have been associated with protection against autoimmunity. We now report on 5 unrelated cases of combined immune deficiency due to hypomorphic RAG mutations, and demonstrate the absence of iNKT cells in all 5 patients. These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome.

2009 ◽  
Vol 13 (2) ◽  
pp. 244-250 ◽  
Author(s):  
Tanja A. Gruber ◽  
Ami J. Shah ◽  
Michelle Hernandez ◽  
Gay M. Crooks ◽  
Hisham Abdel-Azim ◽  
...  

Blood ◽  
2001 ◽  
Vol 97 (9) ◽  
pp. 2772-2776 ◽  
Author(s):  
Barbara Corneo ◽  
Despina Moshous ◽  
Tayfun Güngör ◽  
Nicolas Wulffraat ◽  
Pierre Philippet ◽  
...  

Abstract Omenn syndrome (OS) is an inherited disorder characterized by an absence of circulating B cells and an infiltration of the skin and the intestine by activated oligoclonal T lymphocytes, indicating that a profound defect in the lymphoid developmental program could be accountable for this condition. Inherited mutations in either the recombination activating genes RAG1 orRAG2, resulting in partial V(D)J recombinase activity, were shown to be responsible for OS. This study reports on the characterization of new RAG1/2 gene mutations in a series of 9 patients with OS. Given the occurrence of the same mutations in patients with T-B–severe combined immune deficiency or OS on 3 separate occasions, the proposal is made that an additional factor may be required in certain circumstances for the development of the Omenn phenotype. The nature of this factor is discussed.


1982 ◽  
Vol 1 (6) ◽  
pp. 416-419 ◽  
Author(s):  
MARY ANN SOUTH ◽  
JALE DOLEN ◽  
DIANE K. BEACH ◽  
RADMILA R. MIRKOVIC

1987 ◽  
Vol 15 (22) ◽  
pp. 9365-9378 ◽  
Author(s):  
Th.M. Berkvens ◽  
E.J.A. Gerritsen ◽  
M. Oldenburg ◽  
C. Breukel ◽  
J.Th. Wijnen ◽  
...  

2012 ◽  
Vol 129 (3) ◽  
pp. 762-769.e1 ◽  
Author(s):  
Chimene Kesserwan ◽  
Robert Sokolic ◽  
Edward W. Cowen ◽  
Elizabeth Garabedian ◽  
Kerstin Heselmeyer-Haddad ◽  
...  

2015 ◽  
Vol 21 (2) ◽  
pp. S102
Author(s):  
Donald B. Kohn ◽  
Kit L. Shaw ◽  
Robert Sokolic ◽  
Denise A. Carbonaro ◽  
Alejandar Davila ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document