Immunoglobulin M deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Jogeet Singh Sekhon, M.D. [2]

Synonyms and Keywords: IgM deficiency

Overview

Immunoglobulin M deficiency is said to be present when the levels of IgM in serum are <40mg/dl while the levels of all other immunoglobulins are within normal range. IgM deficiency was first noted in 1969 by Roy- Chawdhary from a jejunal biopsy. It is of 2 types primary and secondary IgM deficiency. IgM deficiency can occur due to a defect in B cells or T cells. IgM deficiency can lead to chronic infections, development of autoimmune disease and neoplastic diseases. IgM deficiency cab be caused in autoimmune conditions and it can itself lead to the development of autoimmune conditions. IgM deficiency can be differentiated from other immunoglobuiln deficiencies by measuring the levels of all the immunoglobulins.The incidence/prevalence of IgM deficiency is approximately 100-2000 per 100,000 individuals worldwide. The patients usually present with chronic or recurrent infections. Signs and symptoms of chronic lung disease, chronic ear and chronic sinus infections may be present.

Historical Perspective

Classification

There is no established system for the classification of IgM deficiency[2].However, it may present as 2 types:

  • Primary IgM deficiency-
    • There occurs just IgM deficiency and no other associated condition.
    • It is present in children as a congenital condition.
  • Secondary IgM deficiency-
    • Along with IgM deficiency there occurs autoimmune disorders or some neoplasms.
    • It occurs in adults and is acquired.

Pathophysiology

Causes

The exact cause of IgM deficiency is not known.

Differentiating IgM deficiency from Other Diseases

  • IgM deficiency can be differentiated from other diseases of the same kind by measuring the value of other immunoglobulins[12][13][14][15][16].
  • In IgM deficiency only IgM levels are deficIent 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 - +
Hyper IgE syndrome - - - - +

Epidemiology and Demographics

  • The incidence of IgM deficiency is approximately 100-2000 per 100,000 individuals worldwide.
  • Primary IgM defiicency is present congenitally in children which presents in age group 3-36 months.
  • Secondary IgM deficiency occurs in adults in age group 30-40, no relation with sex or age.

Risk Factors

There are no established risk factors for IgM deficiency but it occurs more commonly in[17][18]:

Screening

  • There is insufficient data to recommend screening for IgM deficiency.
  • However, in patients presenting with recurrent infections, all immunologlobulins (IgM, IgG, IgA, IgE and IgD) can be measured.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

The diagnosis of IgM deficiency is made by measuring serum IgM levels[24].

  • 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

History and Symptoms

Symptoms

  • The patients may be asymptomatic[28].

Physical Examination

Laboratory Findings

  • Decreased levels of IgM(>40mg/dl) is considered diagnostic for IgM deficiency[24].
  • Levels of other immunoglobulins(IgA, IgG, IgE and IgD)are within normal range.
  • White blood cell count may be raised.

Electrocardiogram

There are no ECG findings associated with IgM defiicency.

X-ray

There are no specific findings for IgM deficiency on x ray but signs of lung disease may be present[31].

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with IgM deficiency

CT scan

  • There are no CT scan findings associated with IgM deficiency.
  • Changes of chronic lung disease, if present will be visible on CT and can help differentiate the cause and extent of the disease.
  • Chronic sinusitis- mucosal thickening, complete opacification, bone remodeling and thickening due to osteitis, and polyposis.

MRI

There are no MRI findings associated with IgM deficiency.

However, signs of chronic lung disease or chronic sinsuitis may be present.

Other Imaging Findings

There are no other imaging findings associated with IgM deficiency.

Other Diagnostic Studies

There are no other diagnostic studies associated with IgM deficiency.

Treatment

Medical Therapy

  • Asymptomatic individuals do not require any treatment[24][19][25].
  • IVIG can be used in some patients but not effective in all the patients in a dose range of 400 to 600 mg/kg infused every three to four weeks intravenously or subcutaneosly.
  • Conjugated pneumococcal vaccine, conjugated haemophilus influenza B and conjugated meningococcal vaccine administered to prevent infections.
  • Prohphylactic antibiotics can be used for recurrent sinopulmonary infections:
  • Treatment of the infections with the appropriate antibiotics.
  • Treatment of atopic diseases such as allergic rhinitis with antihistamines can help in reducing sinopulmonary infections.

Surgery

Surgical intervention is not recommended for the management of IgM deficiency.

Primary Prevention

There are no established measures for the primary prevention of IgM deficiency.

Secondary Prevention

  • Secondary prevention includes prevention of infections by:
    • Avoidance- reduce exposure to others with potentially contagious illnesses, proper hand washing and immunization of family members and close contacts.
    • Vaccination with conjugate vaccines -conjugated pneumococcal vaccine, conjugated haemophillus influenza B and conjugated meningococcal vaccine administered to prevent infections.
    • Use of prophylactic broad spectrum antibiotics.

References

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