These individuals typically have a milder disease presentation; the most common features observed are a susceptibility to bacterial infections and lymphoid hyperplasia. [genedx.com]

So although the problem presents as an inability of B cells to make an appropriate antibody response to infections, the defect is on T cells. [dermnetnz.org]

Acronym HIGM5 Synonyms Hyper-IgM immunodeficiency type 5 Hyper-IgM syndrome 5 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Signs and symptoms Among the presentation consistent with hyper IgM syndrome are the following: Infection/Pneumocystis pneumonia (PCP), which is common in infants with hyper IgM syndrome, is a serious illness. [owlapps.net]

When present, neutropenia may also improve during IgG replacement. [primaryimmune.org]

• Recurrent Bacterial Infection

  bacterial infections Recurrent upper and lower respiratory tract infections Abnormality of the respiratory system Recurrent upper and lower respiratory tract infections IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR [ncbi.nlm.nih.gov]

Clinical Testing and Workup Blood tests will be ordered to determine the status of immunoglobulins in the blood, including normal or high levels of IgM and low levels of other immunoglobulin classes. [rarediseases.org]

[edit] In terms of treatment for hyper IgM syndrome, there is the use of allogeneic hematopoietic cell transplantation. [en.wikipedia.org]

However, G-CSF treatment is only necessary in selected patients and long-term treatment with G-CSF is usually not recommended. [primaryimmune.org]

The other forms of autosomal recessive hyper IgM (caused by mutations in AID and UNG) have a better prognosis as the defect is mainly an antibody deficiency. [cancertherapyadvisor.com]

While a permanent cure is anticipated after successful stem cell transplantation, the long-term prognosis for these patients is not yet known. [primaryimmune.org]

Ongoing controversies regarding etiology, diagnosis, treatment [cancertherapyadvisor.com]

Epidemiology Frequency United States In 2003, the US XHIGM registry reported that the minimal incidence rate of XHIGM was approximately 1 in 1,000,000 live births from 1984-1993. [4] This may be an underestimation because not all physicians in the United [emedicine.medscape.com]

Pathophysiology CD40 is a co-stimulatory receptor on B cells that, when bound to CD40 ligand (CD40L), sends a signal to the B-cell receptor. When there is a defect in CD40, this leads to defective T-cell interaction with B cells. [owlapps.net]

This results in an overproduction of IgM antibodies and an underproduction of IgA, IgG, and IgE.[13][7] Pathophysiology[edit] CD40 is a costimulatory receptor on B cells that, when bound to CD40 ligand (CD40L), sends a signal to the B-cell receptor.[14 [en.wikipedia.org]

Antibody replacement can prevent infections and reduce mortality and morbidity, but cannot prevent cancer and other severe complications. [cancertherapyadvisor.com]

However it may not prevent the opportunistic infections. In some cases it also improves growth. Trimethoprim + sulphamethoxazole may be given prophylactically to prevent Pneumocystis jirovecii infection. [dermnetnz.org]

Platelets are specialized blood cells that help prevent and stop bleeding. [rarediseases.org]

Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. [medlineplus.gov]

Several risk factors increase a person's chances of developing WM, but most are not preventable. [clinicamaterbaby.com.br]