Immunoglobulin M deficiency
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Synonyms and keywords:
Overview
Historical Perspective
[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
There have been several outbreaks of [disease name], including -----.
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].
Classification
There is no established system for the classification of IgM deficiency.
- However, it may present as 2 types:
- Primary IgM deficiency- There ocuurs just IgM deficiency and no other associated condition.
- Secondary IgM- Alongwith IgM deficiency there occurs autoimmune disorders or some neoplasms.
Pathophysiology
- IgM is the first antibody that is present on the surface of B lymphocytes.
- It is the primary antibody against A and B antigens on red blood cells.
- Other immunoglublins such as IgG, IgA and IgE are produced after alteration in the structure of IgM heavy chains on the B lymphocytes.
- IgM is present in the circulation as a pentamer structure. and is the largest antibody in human circulatory system.
- Demonstrating IgM antibodies in a patient's serum indicates recent infection, or in a neonate's serum indicates intrauterine infection (e.g. congenital rubella).
- IgM activates the classic pathway of complement system.
- In IgM deficiency there occurs deficiency of IgM but normal levels of IgG and IgA.
- The level of IgM in serum is less than 40mg/dl (normal value 45-150mg/dl).
- The defeciency in IgM could be due to:
- B cell defect- inability of B cell differentiation into IgM secreting cells.
- T cell defect- decreased helper T cell activity for IgM.
- Genetics- chromosome 22q11.2 deletion syndrome.
- This results in decreased sysnthesis of IgM in the body.
- It can be primary or secondary.
- The primary IgM deficiency presents with chronic infections while secondary presents with associated autoimmune conditions or neoplasms.
- Due to absence of IgM infections like otitis media, chronic sinusitis, bronchitis, bronchiectasis, pneumonia, urinary tract infections, cellulitis, meningitis, sepsis, etc. are very common.
- Most common infections are staphylococcus aures, streptoccus pneumonia and haemophilus influenza.
- IgM deficiency increases the risk of acquiring autoimmune and some malignant conditions.
- Autoimmune glomerulonephritis
- Autoimmune hemolytic anemia
- Autoimmune thrombocytopenia
- Celiac disease
- Crohns disease
- Hashimotto thyroiditis
- Myathenia gravis
- Rheumatoid arthritis
- Sarcoma
- Lymphoma
- Plasmacytoma
Causes
The exact cause of IgM deficiency is not known.
- Primary IgM deficiency ouccrs in children and is congenital.
- Secondary igM deficiency occurs in adullts and is associated with autoimmune disorders and neoplasms.
- There is no identified cause but risk factors which are:
- Autoimmune glomerulonephritis
- Autoimmune hemolytic anemia
- Autoimmune thrombocytopenia
- Celiac disease
- Crohns disease
- Hashimotto thyroiditis
- Myathenia gravis
- Rheumatoid arthritis
- Systemic lupus erythematosus
- Sarcoma
- Lymphoma
- Plasmacytoma
Differentiating ((Page name)) from Other Diseases
- IgM deficiency can be differentiated from other diseases of the same kind by measuring the value of other immunoglobulins.
- In Igm deficiency only IgM levels are defiicent while the rest are within normal limits.
| Disease | IgM levels | IgG levels | IgA levels | IgE levels | B cell defect | T cell defect |
|---|---|---|---|---|---|---|
| IgM deficiency | ↓ | - | - | - | - | - |
| IgA deficiency | - | - | ↓ | - | - | - |
| IgG deficiency | - | ↓ | - | - | - | - |
| IgE deficiency | - | - | - | ↓ | - | - |
| Hypoproteinemia/Proteinuria | ↓ | ↓ | ↓ | ↓ | - | - |
| Comined Immunodeficiency | ↓ | ↓ | ↓ | ↓ | + | + |
| X linked agammaglobulinemia | ↓ | ↓ | ↓ | ↓ | + | - |
| Hyperimmunoglobulin M syndrome | ↑ | ↓ | ↓ | ↓ | + | - |
| Common variable immunodeficiency | ↓ | ↓ | ↓ | ↓ | + | - |
| Wiskott-Aldrich syndrome | ↓ | ↓ | ↑ | ↑ | - | + |
Epidemiology and Demographics
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
OR
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
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In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
Patients of all age groups may develop [disease name].
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The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
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[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
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[Chronic disease name] is usually first diagnosed among [age group].
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[Acute disease name] commonly affects [age group].
There is no racial predilection to [disease name].
OR
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
[Disease name] affects men and women equally.
OR
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
The majority of [disease name] cases are reported in [geographical region].
OR
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Risk Factors
There are no established risk factors for [disease name].
OR
The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
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Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
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Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
Screening
There is insufficient evidence to recommend routine screening for [disease/malignancy].
OR
According to the [guideline name], screening for [disease name] is not recommended.
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According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
Natural History, Complications, and Prognosis
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
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Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
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Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
Diagnosis
Diagnostic Study of Choice
The diagnosis of IgM deficiency is made by measuring serum IgM levels.
- Serum IgM levels of >40mg/dl is diagnostic of igM deficiency
- Serum sample is taken and then anti immunoglobulins are added.
- The amount of IgM produced is then measured.
- Other tests include
- CBC
- Serum IgG, IgA, IgE and IgD levels
- Complement profile
- Serum and urine electrophoresis
- Serum ANA levels
History and Symptoms
The majority of patients with [disease name] are asymptomatic.
OR
- The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
Physical Examination
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
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Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
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The presence of [finding(s)] on physical examination is diagnostic of [disease name].
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The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Laboratory Findings
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
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Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
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[Test] is usually normal among patients with [disease name].
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Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
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There are no diagnostic laboratory findings associated with [disease name].
Electrocardiogram
There are no ECG findings associated with [disease name].
OR
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
X-ray
There are no x-ray findings associated with [disease name].
OR
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
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There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Echocardiography or Ultrasound
There are no echocardiography/ultrasound findings associated with [disease name].
OR
Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
CT scan
There are no CT scan findings associated with [disease name].
OR
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
MRI
There are no MRI findings associated with [disease name].
OR
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Other Imaging Findings
There are no other imaging findings associated with [disease name].
OR
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
Other Diagnostic Studies
There are no other diagnostic studies associated with [disease name].
OR
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
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Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
Treatment
Medical Therapy
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
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Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
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The majority of cases of [disease name] are self-limited and require only supportive care.
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[Disease name] is a medical emergency and requires prompt treatment.
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The mainstay of treatment for [disease name] is [therapy].
OR The optimal therapy for [malignancy name] depends on the stage at diagnosis.
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[Therapy] is recommended among all patients who develop [disease name].
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Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
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Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
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Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
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Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
Surgery
Surgical intervention is not recommended for the management of [disease name].
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Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
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The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
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The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
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Surgery is the mainstay of treatment for [disease or malignancy].
Primary Prevention
There are no established measures for the primary prevention of [disease name].
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There are no available vaccines against [disease name].
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Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
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[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
Secondary Prevention
There are no established measures for the secondary prevention of [disease name].
OR
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].