Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients

2021 ◽  
Author(s):  
Nguyen Thi Kim Lien ◽  
Nguyen Thi Van Anh ◽  
Le Quynh Chi ◽  
Nguyen Ngoc Quynh Le ◽  
Thuc Thanh Huyen ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Hyper Igm Syndrome ◽  
Hyper Igm

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

1996 ◽  
Vol 17 (11) ◽  
pp. 511-516 ◽  
Author(s):  
Luigi D. Notarangelo ◽  
Manuel C. Peitsch ◽  
Tore G. Abrahamsen ◽  
Colette Bachelot ◽  
Pierre Bordigoni ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Hyper Igm Syndrome ◽  
Hyper Igm

Atypical Pneumocystis Carinii Pneumonia in a Child with Hyper-IgM Syndrome

1998 ◽  
Vol 18 (1) ◽  
pp. 71-78
Author(s):  
Michael Miller ◽  
Ilham Algayed ◽  
Ram Yogev ◽  
Pauline Chou ◽  
Paul Scholl ◽  
...  
Keyword(s):  
Pneumocystis Carinii Pneumonia ◽  
Pneumocystis Carinii ◽  
Hyper Igm Syndrome ◽  
Hyper Igm

Patient Specific Targeted Gene Therapy In The Treatment Of X-Linked Hyper-IgM Syndrome

2014 ◽  
Vol 133 (2) ◽  
pp. AB162 ◽  
Author(s):  
Caroline Y. Kuo ◽  
Alok Joglekar ◽  
Donald B. Kohn
Keyword(s):  
Gene Therapy ◽  
Patient Specific ◽  
Hyper Igm Syndrome ◽  
Hyper Igm ◽  
Targeted Gene Therapy

ARDS as Presenting Symptom in an Infant with CD40L Deficiency (Hyper-IgM Syndrome Type 1)

2009 ◽  
Vol 221 (05) ◽  
pp. 302-304 ◽  
Author(s):  
C. Fremerey ◽  
B. Wiebe ◽  
O. Feyen ◽  
C. Lenski ◽  
U. Pohlmann ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Hyper Igm Syndrome ◽  
Hyper Igm

Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome

1999 ◽  
Vol 134 (5) ◽  
pp. 584-588 ◽  
Author(s):  
Coleen K. Cunningham ◽  
Cynthia A. Bonville ◽  
Hans D. Ochs ◽  
Kuniaki Seyama ◽  
Patricia A. John ◽  
...  
Keyword(s):  
Hyper Igm Syndrome ◽  
Hyper Igm

CD40 LIGAND GENE DEFECTS RESPONSIBLE FOR X-LINKED HYPER-IgM SYNDROME

PEDIATRICS ◽  
1994 ◽  
Vol 94 (2) ◽  
pp. 280-280
Author(s):  
Arden Levy ◽  
Andrew Liu
Keyword(s):  
T Cells ◽  
B Cells ◽  
Bacterial Infections ◽  
Point Mutations ◽  
Cd40 Ligand ◽  
Research Groups ◽  
Immune Disorder ◽  
Hyper Igm Syndrome ◽  
Hyper Igm

Purpose of the Studies. Hyper-IgM immunodeficiency is characterized by recurrent bacterial infections, normal or elevated IgM, and markedly decreased IgG, IgA, and IgE. Previous research suggested that the T cells of these patients are defective in their ability to help B cells make functional antibody. CD40 ligand (CD4OL) is a membrane glycoprotein on activated T helper cells and binds the CD40 molecule expressed on B cells, and induces proliferation and immunoglobulin class switching (in conjunction with IL-4). The gene for the CD4OL has been mapped to position q26.3-q27.1 on chromosome X (same as the Hyper-IgM gene and the area of isotype switching). Several research groups sought to determine if the immunodeficiency in Hyper-IgM patients is due to defective CD4OL. Findings. The five papers listed above document the work of different research groups that simultaneously found abnormalities in the CD4OL gene in a total of 16 patients with X-linked Hyper-IgM syndrome. Different mutations of the CD4OL gene have been discovered, including point mutations, deletions, and nonsense sequences. Mutant version of CD4OL taken from Hyper IgM patients were unable to "help" B cells in vitro. Thus, deficient CD40/CD40L interactions between B and T cells results in severely impaired immunity. Restricted CD40L gene expression to T cells may ultimately allow gene therapy as treatment. Reviewers' Comments. A concise editorial by Jean Marx entitled "Cell Communication Failure Leads to Immune Disorder" describes this landmark research and accompanies the Spriggs article in the February 12th issue of Science (pp. 896-897). This discovery may not only lead to treatment of this disorder, but also modification of other less favorable immune responses.

Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome

1997 ◽  
Vol 131 (1) ◽  
pp. 147-150 ◽  
Author(s):  
Rohan Ameratunga ◽  
Howard M. Lederman ◽  
Kathleen E. Sullivan ◽  
Hans D. Ochs ◽  
Kuniaki Seyama ◽  
...  
Keyword(s):  
Lymphocyte Proliferation ◽  
Hyper Igm Syndrome ◽  
Hyper Igm

scholarly journals Ataxia-Telangiectasia with Hyper-IgM Syndrome

2009 ◽  
Vol 23 (7) ◽  
pp. 56
Author(s):  
J Gordon Millichap
Keyword(s):  
Ataxia Telangiectasia ◽  
Hyper Igm Syndrome ◽  
Hyper Igm
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