In the present study, we report a case of X-linked HIGM with a new CD40L gene mutation (HIGM1) presenting with eosinophilia in a young Chinese boy. [spandidos-publications.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]

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

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]

• Recurrent Bacterial Infection

  bacterial 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; it relies on submitters to provide information that [ncbi.nlm.nih.gov]

• Sepsis

  HYPER IGM SYNDROME TYPE 4 Affected individuals have developed infections of the sinuses and lungs (sinopulmonary infections), widespread infection of the blood (sepsis), inflammation and infection of the lymph nodes (lymphadenitis), and infection and [rarediseases.org]

• Oral Ulcers

  After initiating regular Immunoglobulin (IvIG) replacement therapy, the patient experienced a dramatic decrease in oral ulceration and infections along with remarkable increase in weight and height. [link.springer.com]

  ulcers and skin infections Other symptoms of HIgM syndrome may include: Development of autoimmune disorders, including hemolytic anemia and/or thrombocytopenia (abnormally low platelet counts) Chronic arthritis Hypothyroidism Inflammatory bowel disease [chop.edu]

  Severe neutropenia is often associated with oral ulcers, proctitis (inflammation and ulceration of the rectum) and skin infections. Autoimmune disorders may also occur in patients with XHIGM syndrome or CD40 defects. [primaryimmune.org]

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]

Gene therapy is also being investigated as a potential treatment for individuals with hyper IgM syndromes. More studies are needed and it’s still too early to tell if gene therapy could offer a viable treatment alternative. [chop.edu]

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]

PMID: 21192628 Prognosis Al-Saud B, Al-Mousa H, Al-Ahmari A, Al-Ghonaium A, Ayas M, Alhissi S, Al-Muhsen S, Al-Seraihy A, Arnaout R, Al-Dhekri H, Hawwari A Pediatr Transplant 2015 Sep;19(6):634-9. Epub 2015 Jun 13 doi: 10.1111/petr.12538. [ncbi.nlm.nih.gov]

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

Even though a permanent cure is anticipated following successful stem cell transplant, the long-term prognosis for people affected remains unknown. [disabled-world.com]

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

Etiology Medicine (Baltimore) 2019 Feb;98(7):e14559. doi: 10.1097/MD.0000000000014559. [ncbi.nlm.nih.gov]

Allowable Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology [decs.bvsalud.org]

Allowable Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET [decs.bvsalud.org]

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]

[…] therapy to prevent infections and treat autoimmune complications (administered by direct infusion [IVIG] or just below the surface of the skin [subcutaneous immunoglobulin]) Restricted contact to avoid exposure to new potential infections An allogeneic [chop.edu]

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]