While female carriers of immunodeficiency with hyper IgM type 1 typically do not report symptoms, we have identified several studies that explore the possibility of female carriers exhibiting symptoms.
We additionally identified one case report described in the medical literature that you might find helpful. Case reports document clinical findings associated with individual cases. It is important to keep in mind that the clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another. This particular case report describes a female carrier of immunodeficiency with hyper IgM type 1 with symptoms of an immunodeficiency including: recurrent infections of the lower and upper respiratory tract and low IgG and IgA serum (blood) levels.
Last updated: 12/30/2015
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
Thomas J. Kipps. X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome. Journal of Clinical Investigation. August 1994; 94(2):469. http://www.ncbi.nlm.nih.gov/pubmed/8040297. Accessed 12/17/2015.
Diane Hollenbaugh, Lynne H. Wi, Hans D. Ochs, Shigeaki Nonoyama, Laura S. Grosmaire, Jeffrey A. Ledbetter, Randolf J. Noelle, Harry Hill, Alejandro Aruffo. The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1. Journal of Clinical Investigation. August 1994; 94(2):612-622. http://www.ncbi.nlm.nih.gov/pubmed/7518839. Accessed 12/17/2015.
Genevieve de Saint Basile, Marie-Dominique Tabone, Anne Durandy, Florence Phan, Alain Fischer, Francoise Le Deist. CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization. European Journal of Immunology. January 1999; 29(1):367-377. http://www.ncbi.nlm.nih.gov/pubmed/9933119. Accessed 12/17/2015.