Selective immunoglobulin M deficiency in a patient with celiac disease and recurrent pneumonia

Arani, Marziyeh Heidarzadeh; Razavizadeh, Mohsen; ArefNezhad, Reza; Motedayyen, Hossein

doi:10.1002/ccr3.3489

Cited by 2 publications

(3 citation statements)

References 43 publications

(87 reference statements)

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“…According to the European Society for Immunodeficiencies (ESID) registry criteria, SIgMD is defined as repeatedly absent or reduced serum immunoglobulin M (IgM) levels (less than 2 SD or <10% of the values obtained from healthy controls of the same age or an absolute value <20 mg/dL in pediatric age) with normal levels of serum immunoglobulin A (IgA) and immunoglobulin G (IgG) and IgG subclasses, normal vaccine responses, and the absence of T cell defects (numbers and function) after the exclusion of secondary hypogammaglobulinemia (infections, genetic syndromes, chromosomal abnormalities, drugs, lymphomas, protein-losing enteropathy, nephrotic syndrome, thymoma) [6][7][8] and any other specific IEI. Despite this definition, some authors propose that SIgMD should be defined without the exclusion of the IgG subclass deficiency, alterations in T cell subset numbers and functions, and impaired responses to vaccines in order to better understand the different clinical and immunological phenotypes that lie behind the diagnostic term "IgM deficiency" [9].…”

Section: Definition (Clinical and Laboratory)mentioning

confidence: 99%

Selective IgM Deficiency: Evidence, Controversies, and Gaps

Taietti,

Votto,

De Filippo

et al. 2023

Diagnostics

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Selective Immunoglobulin M deficiency (SIgMD) has been recently included in the inborn errors of immunity (IEI) classification by the International Union of Immunological Societies Expert Committee. The understanding of SIgMD is still extremely limited, especially so in cases of SIgMD in the pediatric population. The epidemiology of SIgMD in the pediatric population is still unknown. The pathogenesis of SIgMD remains elusive, and thus far no genetic nor molecular basis has been clearly established as a definitive cause of this primary immunodeficiency. Recurrent respiratory infections represent the main clinical manifestations in children, followed by allergic and autoimmune diseases. No conclusive data on the correct therapeutic management of SIgMD are available. Although, for most SIgMD patients, Ig replacement therapy is not required, it may be recommended for patients with significantly associated antibody deficiency and recurrent or severe infections. Prophylactic antibiotics and the prompt treatment of febrile illness are crucial. There is insufficient evidence on the prognosis of this condition. Therefore, further studies are required to define the disease trajectories and to increase our understanding of the molecular mechanisms underlying SIgMD in order to facilitate a better clinical, immunological, and prognostic characterization of the condition and develop tailored therapeutic management strategies.

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Section: Definition (Clinical and Laboratory)mentioning

confidence: 99%

Selective IgM Deficiency: Evidence, Controversies, and Gaps

Taietti,

Votto,

De Filippo

et al. 2023

Diagnostics

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“… 1 IgM deficient patients tend to have a normal response to vaccinations. 2 The connexin gene encodes a gap junctional protein, which has functions of autoimmune signaling, paracrine signaling, and immune activation. 3 The connexin-26 protein channel is specifically important within the cochlea, playing a role in intercellular signaling.…”

mentioning

confidence: 99%

“… 1 IgM is also known to reduce the risk of developing infections because of its recognition of molecules on bacterial cell walls. 2 Thus, a deficiency may lead to increased infections with common organisms.…”

mentioning

confidence: 99%

IgM Deficiency Associated With Connexin Mutation in an 18-Year-old Male

Sarkaria

Callahan

Hostoffer

et al. 2023

Therapeutic Advances in Allergy and Rhinology

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IgM deficiency is characterized by remarkably low serum levels of IgM with normal IgG and IgA levels. These patients clinically present with recurrent infections, autoimmune disorders, and malignancies. While unknown, the proposed mechanisms explain the pathophysiology as an issue due to impaired IgG antibody response. The connexin genes encode for gap junctional proteins where mutations can cause hearing deficits and immune dysregulation. We present a unique case of an 18-year-old patient with recurrent sinusitis, diagnosed connexin-26 mutation and an IgM deficiency. An 18-year-old male with chronic sinusitis, Marfanoid joint hypermobility syndrome, and sensorineural hearing loss due to connexin-26 deficiency with bilateral cochlear implants. This patient's mutation is a GJB2 deletion located on chromosome 13 which encodes for the connexin-26 protein. The patient experienced recurrent infections, and serum immunoglobulins showed a normal IgA (84 mg/dL; normal: 70-400 mg/dL), IgG (922 mg/dL; normal: 700–1600 mg/dL) and reduced IgM (26 mg/dL; normal: 40–230 mg/dL) levels. The patient was responsive to Mumps, Measles, Rubella, and Diphtheria vaccinations among others, consistent with SIGMD diagnoses. Antibody responses to polysaccharide antigens were absent. The leukocyte counts were within normal limits. His parents are connexin-26 deficient carriers, and his older brother was diagnosed with SIGMD. Connexin-26 has been identified with multiple immunological mechanisms. Although mutations of this gene have no direct tie to antibody formation in relation to IgM, the presence of these 2 pathologies in 1 patient is intriguing and may suggest a pathophysiologic connection. We describe the first case of connexin mutation with an IgM deficiency in an 18-year-old male.

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Selective immunoglobulin M deficiency in a patient with celiac disease and recurrent pneumonia

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 2 publications

References 43 publications

Selective IgM Deficiency: Evidence, Controversies, and Gaps

Selective IgM Deficiency: Evidence, Controversies, and Gaps

IgM Deficiency Associated With Connexin Mutation in an 18-Year-old Male

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