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Immunoglobulin M Deficiency Clinical Presentation

  • Author: Iftikhar Hussain, MD; Chief Editor: Michael A Kaliner, MD  more...
 
Updated: Dec 01, 2015
 

History

Patients may be asymptomatic, with a decreased IgM level noted during the investigation of other diseases, such as malignancies or autoimmune diseases.

Prolonged or life-threatening infections also occur, especially in infancy. Recurrent infections (eg, sinusitis and pneumonia) are often caused by encapsulated bacteria, and pneumococcal sepsis has been reported.[9] Infections with gram negative bacteria are also more common than in normal individuals, especially with Pseudomonas aeruginosa.

Associated disorders or symptoms may include atopic or chronic dermatitis, impetigo,[15] wheezing, and diarrhea. Patients may have a history of splenectomy.

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Physical

Failure to thrive may be present, due at least in part to frequent infections. Other associated signs may include features of dermatitis, allergic rhinitis, wheezing, and splenomegaly, as well as those of other primary conditions associated with secondary SIgM deficiency, such as malignant or autoimmune disorders.

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Causes

The cause of SIgM deficiency is unknown, and no clear pattern of inheritance has been suggested. The stability of the finding of selective deficiency of IgM, vs progression to deficiency of other immunoglobulin isotypes, has not been well characterized.

Patients with malignant neoplasms (eg, clear cell sarcoma, Bloom syndrome, promyelocytic leukemia), autoimmune diseases (eg, rheumatoid arthritis, Hashimoto thyroiditis, systemic lupus erythematosus, autoimmune hemolytic anemia), infections (eg, Brucella), or those given immunosuppressive agents may develop secondary SIgM deficiency.[16, 17]

Two case reports of epidermodysplasia verruciformis (caused by human papillomavirus) associated with SIgM deficiency are reported. One of these patients developed squamous cell carcinoma.[18, 19]

As cited by Zaka-ur-Rab, associations exist between SIgM deficiency and gastrointestinal conditions, including Crohn disease, chronic diarrhea, lymphoid nodular hyperplasia, Whipple disease, and splenomegaly.[20]

Infants with permanent congenital hypothyroidism were shown to have undetectable or lower concentrations of IgA and lower concentrations of IgM than normal controls.[21]

A report of 13 multiple myeloma patients in a phase 2 study showed that the 7 patients who received rituximab following autologous stem cell transplantation developed severely depressed levels of IgM that were persistent with continued rituximab therapy. When compared to the 6 myeloma patients who had received autologous stem cell transplantation without rituximab, not only were IgM levels significantly decreased, but those in the rituximab group experienced far more infections, including 21 cases of pneumonia, 2 cases of sepsis, and one death during the first 12 months.[22]

Three cases of 22q11.2 deletion syndrome associated with SIgM deficiency have been reported. The diagnoses were made at ages 9, 10, and 14 years. All 3 patients presented with recurrent otitis media, velopharyngeal insufficiency, speech delay, and learning disability, and 1 patient also had atrial septal defect/ventricular septal defect.[23, 24]

A 13-year-old African American boy with local lymph node involvement showed, after diagnosis and even 4 years after the chemotherapy, a low and decreasing level of both peripheral memory B cells and blood IgM-positive B lymphocytes. This case report highlights a possible association between SIgM deficiency and chronic CD30+ cutaneous lymphoproliferative disorder.[25]

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Contributor Information and Disclosures
Author

Iftikhar Hussain, MD Director of Allergy, Asthma, and Immunology Center, PC

Iftikhar Hussain, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Physicians, American Thoracic Society, Association of Clinical Research Professionals

Disclosure: Nothing to disclose.

Coauthor(s)

Srividya Sridhara, MD Resident Physician, Department of Internal Medicine, University of Oklahoma

Disclosure: Nothing to disclose.

Bilal Ahmed, MD, MBBS Medical Resident, Jamaica Hospital Medical Center

Disclosure: Nothing to disclose.

Jessica P Bhoyroo, MSc Research Associate

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Michael R Simon, MD, MA Clinical Professor Emeritus, Departments of Internal Medicine and Pediatrics, Wayne State University School of Medicine; Professor, Department of Internal Medicine, Oakland University William Beaumont University School of Medicine; Adjunct Staff, Division of Allergy and Immunology, Department of Internal Medicine, William Beaumont Hospital

Michael R Simon, MD, MA is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, Michigan State Medical Society, Michigan Allergy and Asthma Society, American College of Physicians, American Federation for Medical Research, Royal College of Physicians and Surgeons of Canada, Society for Experimental Biology and Medicine

Disclosure: Received ownership interest from Secretory IgA, Inc. for management position; Received ownership interest from siRNAx, Inc. for management position.

Chief Editor

Michael A Kaliner, MD Clinical Professor of Medicine, George Washington University School of Medicine; Medical Director, Institute for Asthma and Allergy

Michael A Kaliner, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Clinical Investigation, American Thoracic Society, Association of American Physicians

Disclosure: Nothing to disclose.

Additional Contributors

Melvin Berger, MD, PhD Adjunct Professor of Pediatrics and Pathology, Case Western Reserve University; Senior Medical Director, Clinical Research and Development, CSL Behring, LLC

Melvin Berger, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Pediatric Society, American Society for Clinical Investigation, Clinical Immunology Society

Disclosure: Received salary from CSL Behring for employment; Received ownership interest from CSL Behring for employment; Received consulting fee from America''s Health insurance plans for subject matter expert for clinical immunization safety assessment network acvtivity of cdc.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Christina O'Relley Barnes, MD, to the development and writing of this article.

References
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