Immunoglobulin M deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords:

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:
  1. B cell defect- inability of B cell differentiation into IgM secreting cells.
  2. T cell defect- decreased helper T cell activity for IgM.
  3. 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.

OR

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].

OR

The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.

OR

[Disease name] commonly affects individuals younger than/older than [number of years] years of age.

OR

[Chronic disease name] is usually first diagnosed among [age group].

OR

[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].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

OR

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.

OR

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

• The patient may be asysmptomatic or present with signs of chronic infections.
• Children born with IgM deficiency as in primary IgM deficiency present with chronic infections such as:
  • Otitis media
  • Chronic sinusitis
  • Bronchitis
  • Bronchiectasis
  • Pneumonia
  • Urinary tract infections
  • Abscesses
  • Meningitis
  • Gastroenteritis
• Adlults with IgM deficiency as in secondary IgM deficiency also present with chronic and multiple infections.
• With time, autoimmune and neoplastic diseases may also occur such as:
  • Autoimmune glomerulonephritis
  • Autoimmune hemolytic anemia
  • Autoimmune thrombocytopenia
  • Celiac disease
  • Crohns disease
  • Hashimotto thyroiditis
  • Myathenia gravis
  • Rheumatoid arthritis
  • Systemic lupus erythematosus
  • Sarcoma
  • Lymphoma
  • Plasmacytoma
• The prgnosis is good in primary IgM deficiency if diagnosed early as IgM supplements can be given.
• In secondary IgM, autoiimune and neoplastic complications occur and prognosis is poor.

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 IgM deficiency are asymptomatic.
• They may present with history of :
  • Chronic infections
  • Weight loss
  • Chronic lung disease
  • Chronic diarrhea
  • Arthralgias
  • Abscesses
  • Allergic disorders
  • Liver disease

Symptoms

• The patients may be asymptomatic.

• Symptoms of IgMdeficiency may include the symptoms of recurrent sinopulmonary infections include otitis media, rhinosinusitis, and pneumonia andmore serious infections that can occur include osteomyelitis, meningitis, septicemia, diarrhea, and various skin infections:

Physical Examination

• Physical examination of patients with longstanding IgM deficiency may present with

Laboratory Findings

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

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].

OR

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].

OR

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.

OR

Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].

OR

The majority of cases of [disease name] are self-limited and require only supportive care.

OR

[Disease name] is a medical emergency and requires prompt treatment.

OR

The mainstay of treatment for [disease name] is [therapy].

OR   The optimal therapy for [malignancy name] depends on the stage at diagnosis.

OR

[Therapy] is recommended among all patients who develop [disease name].

OR

Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].

OR

Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].

OR

Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].

OR

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].

OR

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]

OR

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].

OR

The feasibility of surgery depends on the stage of [malignancy] at diagnosis.

OR

Surgery is the mainstay of treatment for [disease or malignancy].

Primary Prevention

There are no established measures for the primary prevention of [disease name].

OR

There are no available vaccines against [disease name].

OR

Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

OR

[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].

References

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