Immunodeficiency with hyperimmunoglobulin M: Difference between revisions
From WikiMD's Wellness Encyclopedia
CSV import |
CSV import |
||
| (One intermediate revision by the same user not shown) | |||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Immunodeficiency with hyperimmunoglobulin M | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = X-linked recessive pattern | |||
| synonyms = Hyper-IgM syndrome | |||
| field = [[Immunology]] | |||
| symptoms = Recurrent [[infections]], low levels of [[IgG]], [[IgA]], and [[IgE]] with normal or elevated [[IgM]] | |||
| complications = [[Autoimmune disorders]], [[liver disease]], [[cancer]] | |||
| onset = Usually in [[infancy]] or [[early childhood]] | |||
| duration = Lifelong | |||
| causes = Genetic mutations affecting [[CD40 ligand]] or other related proteins | |||
| risks = Male gender (for X-linked form) | |||
| diagnosis = [[Blood test]]s showing immunoglobulin levels, genetic testing | |||
| differential = [[Common variable immunodeficiency]], [[X-linked agammaglobulinemia]] | |||
| treatment = [[Immunoglobulin replacement therapy]], [[antibiotics]], [[hematopoietic stem cell transplantation]] | |||
| prognosis = Variable, depending on severity and treatment | |||
| frequency = Rare | |||
}} | |||
'''Immunodeficiency with hyperimmunoglobulin M''' (also known as '''Hyper IgM syndrome''') is a rare and complex primary immunodeficiency disease characterized by low levels of antibodies necessary for defending the body against bacterial or viral infections. | '''Immunodeficiency with hyperimmunoglobulin M''' (also known as '''Hyper IgM syndrome''') is a rare and complex primary immunodeficiency disease characterized by low levels of antibodies necessary for defending the body against bacterial or viral infections. | ||
== Symptoms == | == Symptoms == | ||
Patients with Hyper IgM syndrome may experience frequent and severe infections, including [[pneumonia]], [[sinusitis]], and [[skin infections]]. Other symptoms may include [[diarrhea]], [[hepatitis]], and [[encephalitis]]. | Patients with Hyper IgM syndrome may experience frequent and severe infections, including [[pneumonia]], [[sinusitis]], and [[skin infections]]. Other symptoms may include [[diarrhea]], [[hepatitis]], and [[encephalitis]]. | ||
== Causes == | == Causes == | ||
Hyper IgM syndrome is caused by mutations in several different genes, including the [[CD40 ligand]] gene, which is located on the X chromosome. This is why the disease is more common in males. | Hyper IgM syndrome is caused by mutations in several different genes, including the [[CD40 ligand]] gene, which is located on the X chromosome. This is why the disease is more common in males. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Hyper IgM syndrome is based on clinical symptoms, family history, and laboratory tests. These tests may include [[immunoglobulin]] levels, [[antibody]] response to vaccines, and genetic testing. | Diagnosis of Hyper IgM syndrome is based on clinical symptoms, family history, and laboratory tests. These tests may include [[immunoglobulin]] levels, [[antibody]] response to vaccines, and genetic testing. | ||
== Treatment == | == Treatment == | ||
Treatment for Hyper IgM syndrome is aimed at preventing and treating infections. This may include [[antibiotics]], [[immunoglobulin replacement therapy]], and in severe cases, [[hematopoietic stem cell transplantation]]. | Treatment for Hyper IgM syndrome is aimed at preventing and treating infections. This may include [[antibiotics]], [[immunoglobulin replacement therapy]], and in severe cases, [[hematopoietic stem cell transplantation]]. | ||
== See also == | == See also == | ||
* [[Primary immunodeficiency]] | * [[Primary immunodeficiency]] | ||
* [[Immunoglobulin M]] | * [[Immunoglobulin M]] | ||
* [[CD40 ligand]] | * [[CD40 ligand]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
{{stub}} | {{stub}} | ||
[[Category:Immunodeficiency diseases]] | [[Category:Immunodeficiency diseases]] | ||
[[Category:Genetic diseases]] | [[Category:Genetic diseases]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 21:23, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Immunodeficiency with hyperimmunoglobulin M | |
|---|---|
| |
| Synonyms | Hyper-IgM syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent infections, low levels of IgG, IgA, and IgE with normal or elevated IgM |
| Complications | Autoimmune disorders, liver disease, cancer |
| Onset | Usually in infancy or early childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations affecting CD40 ligand or other related proteins |
| Risks | Male gender (for X-linked form) |
| Diagnosis | Blood tests showing immunoglobulin levels, genetic testing |
| Differential diagnosis | Common variable immunodeficiency, X-linked agammaglobulinemia |
| Prevention | N/A |
| Treatment | Immunoglobulin replacement therapy, antibiotics, hematopoietic stem cell transplantation |
| Medication | N/A |
| Prognosis | Variable, depending on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
Immunodeficiency with hyperimmunoglobulin M (also known as Hyper IgM syndrome) is a rare and complex primary immunodeficiency disease characterized by low levels of antibodies necessary for defending the body against bacterial or viral infections.
Symptoms[edit]
Patients with Hyper IgM syndrome may experience frequent and severe infections, including pneumonia, sinusitis, and skin infections. Other symptoms may include diarrhea, hepatitis, and encephalitis.
Causes[edit]
Hyper IgM syndrome is caused by mutations in several different genes, including the CD40 ligand gene, which is located on the X chromosome. This is why the disease is more common in males.
Diagnosis[edit]
Diagnosis of Hyper IgM syndrome is based on clinical symptoms, family history, and laboratory tests. These tests may include immunoglobulin levels, antibody response to vaccines, and genetic testing.
Treatment[edit]
Treatment for Hyper IgM syndrome is aimed at preventing and treating infections. This may include antibiotics, immunoglobulin replacement therapy, and in severe cases, hematopoietic stem cell transplantation.
See also[edit]
References[edit]
<references />
