Ann Allergy Asthma Immunol xxx (2014) 1
Contents lists available at ScienceDirect
Letter
Good syndrome and polymyositis Good syndrome (GS) was first described by Dr Robert Good in 1954 in an adult patient with thymoma and immunodeficiency.1 The immunodeficiency found in GS typically demonstrates low to absent B cells in the peripheral blood, hypogammaglobulinemia, and defects in cell-mediated immunity in patients 40 to 70 years of age.2e4 Infections associated with both B- and T-cell defects are common.5 Autoimmune disorders and their complications have been associated with GS. Although dysregulation of T-cell function has been implicated, the pathogenesis remains unclear.5,6 In a systematic review by Kelesidis and Yang6 of 152 patients diagnosed as having GS, pure red blood cell aplasia and myasthenia gravis were the most prevalent comorbidities, followed by oral lichen planus, aplastic anemia, macrocytic anemia, autoimmune hemolytic anemia, monoclonal gammopathy, diabetes mellitus, polyarthropathy, and myelodysplastic syndrome. Polymyositis has never been reported in a patient with GS. Polymyositis is an inflammatory myopathy that is thought to be caused by a T-cellemediated cytotoxicity.7 The clinical presentation includes progressive muscle weakness, fatigue, dysphagia, and arthralgias. Diagnosis is based on characteristic abnormalities of serum muscle enzymes, electromyography, and muscle biopsy after other myopathies have been ruled out specifically by clinical manifestations and diagnostic testing. Patients may be treated with corticosteroids, immunosuppressive medications, immunosuppressant, and/or immunomodulatory modalities. The patient initially developed radiographic evidence of a mediastinal mass at the age of 65 years. Further evaluation and biopsy revealed the presence of a thymoma. Three years after the resection of the thymoma, the patient developed recurrent thrush, esophageal candidiasis, and onychomycosis. The patient was hospitalized for pneumonia 4 times per year before treatment. At the age of 73 years, with no prior history of muscle disease, he developed proximal muscle weakness that involved, most prominently, the muscles of his neck and shoulders. Elevated muscle enzyme levels (creatine phosphokinase, aldolase, and serum glutamic oxaloacetic transaminase) suggested a myopathy. A left deltoid muscle biopsy specimen revealed inflammatory myopathy without inclusive bodies. Degeneration and regeneration of muscle fibers were noted accompanied by focal perimysial and endomysial lymphatic infiltrates. Electromyographic analysis suggested myopathic changes. Laboratory evaluation performed at 75 years of age revealed a low total absolute CD3þ cell count of 570 cells/mm3 (reference range, 625-2400 cells/mm3), an absolute CD3þ CD4þ cell count of 414 cells/mm3 (reference range, 400-1400 cells/mm3), and an absolute CD3þ CD8þ cell count of 141 cells/mm3 (reference range, 160-880 cells/mm3). The response to mitogen and antigen stimulation was markedly diminished (phytohemagglutinin: 10,870
cpm [reference range, >188,800 cpm]; pokeweed mitogen: 8,311 cpm [reference range, >68,549 cpm]; concanavalin A: 20,962 cpm [reference range, >81,283 cpm]; Staphylococcus aureus Cowan strain: 2,644 cpm [reference range, >3,412 cpm]). Absolute CD19þ cells counts were low at 30 cells/mm3 (reference range, 70-500 cells/mm3). Serum IgG levels were low at a level of 535 mg/dL (reference range, 688-1,251 mg/dL). He received the Pneumovax, and both the prevaccine and 30-day postvaccine titers were absent. He was treated with intravenous immunoglobulin, 1 g/kg every 4 weeks, and oral fluconazole every other day. These therapeutic options stabilized his condition for several years. He eventually died of respiratory failure during a pneumonia infection. The association of thymoma with autoimmune and paraneoplastic disorders is well documented.8 Polymyositis is found in approximately 5% of thymoma cases; however, polymyositis has never been previously documented in a patient with confirmed GS.7 This case represents the first association of GS and polymyositis. John Frith, DO Erin Toller-Artis, DO Haig Tcheurekdjian, MD Robert Hostoffer, DO University Hospitals Regional Medical Center Allergy/Immunology Fellowship Richmond Heights, Ohio [email protected]
References [1] Good RA. Agammaglobulinaemiada provocative experiment of nature. Bull Univ Minn. 1954;26:1e19. [2] Stiehm ER, Ochs HD, Winkelstein JA. Immunologic Disorders in Infants & Children. Philadelphia, PA: WB Saunders; 2004. [3] Kelleher P, Misbah SA. Review: What is Good’s syndrome? immunological abnormalities in patients with thymoma. J Clin Pathol. 2003;56:12e16. [4] Joven MH, Palalay MP, Sonido CY. Case report and literature review on Good’s syndrome, a form of acquired immunodeficiency associated with thymomas. Hawaii J Med Public Health. 2013;72:56e62. [5] Tarr PE, Sneller MC, Mechanic LJ, et al. Infections in patients with immunodeficiency with thymoma (Good syndrome): report of 5 cases and review of the literature. Medicine. 2001;80:123e133. [6] Kelesidis T, Yang O. Review: Good’s syndrome remains a mystery after 55 years: a systematic review of the scientific evidence. Clin Immunol. 2010;135: 347e363. [7] Dalakas MC. Polymyositis, dermatomyositis, and inclusion body myositis. In: Longo D, Fauci A, Kasper D, et al. Harrison’s Principles of Internal Medicine. 18th ed. New York, NY: McGraw Hill Professional; 2011:3509e3518. [8] Souadjian JV, Enriquez P, Silverstein MN, et al. The spectrum of diseases associated with thymoma: coincidence or syndrome. Arch Intern Med. 1974; 134:374e379.
Disclosures: Authors have nothing to disclose. 1081-1206/14/$36.00 - see front matter Ó 2014 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.anai.2014.03.001
Contents lists available at ScienceDirect
Letter
Good syndrome and polymyositis Good syndrome (GS) was first described by Dr Robert Good in 1954 in an adult patient with thymoma and immunodeficiency.1 The immunodeficiency found in GS typically demonstrates low to absent B cells in the peripheral blood, hypogammaglobulinemia, and defects in cell-mediated immunity in patients 40 to 70 years of age.2e4 Infections associated with both B- and T-cell defects are common.5 Autoimmune disorders and their complications have been associated with GS. Although dysregulation of T-cell function has been implicated, the pathogenesis remains unclear.5,6 In a systematic review by Kelesidis and Yang6 of 152 patients diagnosed as having GS, pure red blood cell aplasia and myasthenia gravis were the most prevalent comorbidities, followed by oral lichen planus, aplastic anemia, macrocytic anemia, autoimmune hemolytic anemia, monoclonal gammopathy, diabetes mellitus, polyarthropathy, and myelodysplastic syndrome. Polymyositis has never been reported in a patient with GS. Polymyositis is an inflammatory myopathy that is thought to be caused by a T-cellemediated cytotoxicity.7 The clinical presentation includes progressive muscle weakness, fatigue, dysphagia, and arthralgias. Diagnosis is based on characteristic abnormalities of serum muscle enzymes, electromyography, and muscle biopsy after other myopathies have been ruled out specifically by clinical manifestations and diagnostic testing. Patients may be treated with corticosteroids, immunosuppressive medications, immunosuppressant, and/or immunomodulatory modalities. The patient initially developed radiographic evidence of a mediastinal mass at the age of 65 years. Further evaluation and biopsy revealed the presence of a thymoma. Three years after the resection of the thymoma, the patient developed recurrent thrush, esophageal candidiasis, and onychomycosis. The patient was hospitalized for pneumonia 4 times per year before treatment. At the age of 73 years, with no prior history of muscle disease, he developed proximal muscle weakness that involved, most prominently, the muscles of his neck and shoulders. Elevated muscle enzyme levels (creatine phosphokinase, aldolase, and serum glutamic oxaloacetic transaminase) suggested a myopathy. A left deltoid muscle biopsy specimen revealed inflammatory myopathy without inclusive bodies. Degeneration and regeneration of muscle fibers were noted accompanied by focal perimysial and endomysial lymphatic infiltrates. Electromyographic analysis suggested myopathic changes. Laboratory evaluation performed at 75 years of age revealed a low total absolute CD3þ cell count of 570 cells/mm3 (reference range, 625-2400 cells/mm3), an absolute CD3þ CD4þ cell count of 414 cells/mm3 (reference range, 400-1400 cells/mm3), and an absolute CD3þ CD8þ cell count of 141 cells/mm3 (reference range, 160-880 cells/mm3). The response to mitogen and antigen stimulation was markedly diminished (phytohemagglutinin: 10,870
cpm [reference range, >188,800 cpm]; pokeweed mitogen: 8,311 cpm [reference range, >68,549 cpm]; concanavalin A: 20,962 cpm [reference range, >81,283 cpm]; Staphylococcus aureus Cowan strain: 2,644 cpm [reference range, >3,412 cpm]). Absolute CD19þ cells counts were low at 30 cells/mm3 (reference range, 70-500 cells/mm3). Serum IgG levels were low at a level of 535 mg/dL (reference range, 688-1,251 mg/dL). He received the Pneumovax, and both the prevaccine and 30-day postvaccine titers were absent. He was treated with intravenous immunoglobulin, 1 g/kg every 4 weeks, and oral fluconazole every other day. These therapeutic options stabilized his condition for several years. He eventually died of respiratory failure during a pneumonia infection. The association of thymoma with autoimmune and paraneoplastic disorders is well documented.8 Polymyositis is found in approximately 5% of thymoma cases; however, polymyositis has never been previously documented in a patient with confirmed GS.7 This case represents the first association of GS and polymyositis. John Frith, DO Erin Toller-Artis, DO Haig Tcheurekdjian, MD Robert Hostoffer, DO University Hospitals Regional Medical Center Allergy/Immunology Fellowship Richmond Heights, Ohio [email protected]
References [1] Good RA. Agammaglobulinaemiada provocative experiment of nature. Bull Univ Minn. 1954;26:1e19. [2] Stiehm ER, Ochs HD, Winkelstein JA. Immunologic Disorders in Infants & Children. Philadelphia, PA: WB Saunders; 2004. [3] Kelleher P, Misbah SA. Review: What is Good’s syndrome? immunological abnormalities in patients with thymoma. J Clin Pathol. 2003;56:12e16. [4] Joven MH, Palalay MP, Sonido CY. Case report and literature review on Good’s syndrome, a form of acquired immunodeficiency associated with thymomas. Hawaii J Med Public Health. 2013;72:56e62. [5] Tarr PE, Sneller MC, Mechanic LJ, et al. Infections in patients with immunodeficiency with thymoma (Good syndrome): report of 5 cases and review of the literature. Medicine. 2001;80:123e133. [6] Kelesidis T, Yang O. Review: Good’s syndrome remains a mystery after 55 years: a systematic review of the scientific evidence. Clin Immunol. 2010;135: 347e363. [7] Dalakas MC. Polymyositis, dermatomyositis, and inclusion body myositis. In: Longo D, Fauci A, Kasper D, et al. Harrison’s Principles of Internal Medicine. 18th ed. New York, NY: McGraw Hill Professional; 2011:3509e3518. [8] Souadjian JV, Enriquez P, Silverstein MN, et al. The spectrum of diseases associated with thymoma: coincidence or syndrome. Arch Intern Med. 1974; 134:374e379.
Disclosures: Authors have nothing to disclose. 1081-1206/14/$36.00 - see front matter Ó 2014 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.anai.2014.03.001
