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]

• Increased Susceptibility to Infections

  As a consequence, people with HIGM have an increased susceptibility to infections.[9][7][10] Signs and symptoms[edit] Hyper IgM syndrome can have the following syndromes:[1][11] Infection/Pneumocystis pneumonia (PCP), which is common in infants with hyper [en.wikipedia.org]

  As a consequence, people with HIGM have decreased concentrations of serum IgG and IgA and normal or elevated IgM, leading to increased susceptibility to infections. [owlapps.net]

• Recurrent Infection

  Recurrent infection is the hallmark of all immunodeficiency diseases. Recurrent sinopulmonary infections are seen in antibody deficiency diseases as well as in the combined (Tcell and antibody) immune deficiencies. [cancertherapyadvisor.com]

  Patients with Hyper-IgM (HIGM) syndrome are susceptible to recurrent and severe infections and in some types of HIGM syndrome opportunistic infections and an increased risk of cancer as well. [primaryimmune.org]

  The effect of two different dosages of intravenous immunoglobulin on the incidence of recurrent infections in patients with primary hypogammaglobulinemia. A randomized, double-blind, multicenter crossover trial. [emedicine.medscape.com]

• Lymphadenopathy

  Abnormality of the genitourinary system Epididymitis Abnormality of the immune system Epididymitis IgA deficiency IgG deficiency Immunodeficiency Impaired Ig class switch recombination Increased IgM level Lymphadenopathy Recurrent bacterial infections [ncbi.nlm.nih.gov]

  Abnormal enlargement of the spleen (splenomegaly) and the lymph nodes (lymphadenopathy) because of an increase in the number of white blood cells within lymph nodes (lymphoid hyperplasia) are also common. [rarediseases.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]

• Pneumonia

  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]

  These individuals often present with severe, recurrent sinopulmonary infections, Pneumocystis jeroveci (aka Pneumocystis carinii) pneumonia (PCP), chronic diarrhea and may have intermittent or persistent neutropenia. [genedx.com]

  Pneumonia affects over 80% of patients; Pneumocystis jiroveci pneumonia is the presenting problem in 40% (previously known as Pneumocystis carinii) Ear infections (otitis) Sinus infections (sinusitis) Central nervous system infections (bacterial, viral [dermnetnz.org]

  As a consequence, people with HIGM have an increased susceptibility to infections.[9][7][10] Signs and symptoms[edit] Hyper IgM syndrome can have the following syndromes:[1][11] Infection/Pneumocystis pneumonia (PCP), which is common in infants with hyper [en.wikipedia.org]

• Diarrhea

  Hyper IgM syndrome type 5 Immunoglobulin M Symptoms Chronic diarrhea[1] Types Hyper-IgM syndrome type 1,2,3,4 and 5[2][3][4][5][6] Diagnostic method MRI, Chest radiography and genetic testing[1] Treatment Allogeneic hematopoietic cell transplantation[ [en.wikipedia.org]

  These individuals often present with severe, recurrent sinopulmonary infections, Pneumocystis jeroveci (aka Pneumocystis carinii) pneumonia (PCP), chronic diarrhea and may have intermittent or persistent neutropenia. [genedx.com]

• Chronic Diarrhea

  Hyper IgM syndrome type 5 Immunoglobulin M Symptoms Chronic diarrhea[1] Types Hyper-IgM syndrome type 1,2,3,4 and 5[2][3][4][5][6] Diagnostic method MRI, Chest radiography and genetic testing[1] Treatment Allogeneic hematopoietic cell transplantation[ [en.wikipedia.org]

  These individuals often present with severe, recurrent sinopulmonary infections, Pneumocystis jeroveci (aka Pneumocystis carinii) pneumonia (PCP), chronic diarrhea and may have intermittent or persistent neutropenia. [genedx.com]

• Arthritis

  Hepatitis (Hepatitis C) Chronic diarrhea Hypothyroidism Neutropenia Arthritis Encephalopathy (degenerative) Cause[edit] Class switch recombination Different genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive [en.wikipedia.org]

  The fungus is common and is present in over 70% of healthy people’s lungs, however, Hyper IgM patients are not able to fight it off without the administration of Bactrim) Hepatitis (Hepatitis C) Chronic diarrhea Hypothyroidism Neutropenia Arthritis Encephalopathy [owlapps.net]

• Encephalopathy

  Hepatitis (Hepatitis C) Chronic diarrhea Hypothyroidism Neutropenia Arthritis Encephalopathy (degenerative) Cause[edit] Class switch recombination Different genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive [en.wikipedia.org]

  The fungus is common and is present in over 70% of healthy people’s lungs, however, Hyper IgM patients are not able to fight it off without the administration of Bactrim) Hepatitis (Hepatitis C) Chronic diarrhea Hypothyroidism Neutropenia Arthritis Encephalopathy [owlapps.net]

• Seizure

  The most common symptoms of this disorder are thickened skin, misshapen teeth, absent sweat glands (which can lead to overheating, high fevers and seizures), and thin, sparse hair. [clinicamaterbaby.com.br]

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]