Comparisons of CVID and IgGSD: Referring Physicians, Autoimmune Conditions, Pneumovax Reactivity, Immunoglobulin Levels, Blood Lymphocyte Subsets, and HLA-A and -B Typing in 432 Adult Index Patients

Bertoli, Luigi F.; Barton, James C.

doi:10.1155/2014/542706

Cited by 22 publications

(37 citation statements)

References 58 publications

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“…Autoimmune conditions were also common in another cohort of persons with selective subnormal IgG1 [6] and in other case series of IgGSD [39][40][41]. The aggregate prevalence of 29 autoimmune conditions in the United States general population is estimated to be 7.6-9.4% [42].…”

Section: Discussionmentioning

confidence: 88%

Selective subnormal IgG3 in 121 adult index patients with frequent or severe bacterial respiratory tract infections

Barton

Bertoli²,

Acton

2016

Cellular Immunology

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Section: Discussionmentioning

confidence: 88%

Selective subnormal IgG3 in 121 adult index patients with frequent or severe bacterial respiratory tract infections

Barton

Bertoli²,

Acton

2016

Cellular Immunology

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“…In our cohort CVID patients suffered the most non-infectious complications, but we also identified non-infectious complications in other PADs. Non-infectious complications in IGSCD have also been recognized in other cohorts, although a recent Dutch study did not identify any non-infectious complications in a cohort of patients with HGG ( 35 , 36 ). Importantly, two IGSCD patients in our cohort harbored NFKB2 mutations, which may have predisposed these patients to the more severe clinical phenotype.…”

Section: Discussionmentioning

confidence: 99%

Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults

et al. 2018

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BackgroundPredominantly antibody deficiencies (PADs) are the most common type of primary immunodeficiency in adults. PADs frequently pass undetected leading to delayed diagnosis, delayed treatment, and the potential for end-organ damage including bronchiectasis. In addition, PADs are frequently accompanied by comorbid autoimmune disease, and an increased risk of malignancy.ObjectivesTo characterize the diagnostic and clinical features of adult PAD patients in Victoria, Australia.MethodsWe identified adult patients receiving, or having previously received immunoglobulin replacement therapy for a PAD at four hospitals in metropolitan Melbourne, and retrospectively characterized their clinical and diagnostic features.Results179 patients from The Royal Melbourne, Alfred and Austin Hospitals, and Monash Medical Centre were included in the study with a median age of 49.7 years (range: 16–87 years), of whom 98 (54.7%) were female. The majority of patients (116; 64.8%) met diagnostic criteria for common variable immunodeficiency (CVID), and 21 (11.7%) were diagnosed with X-linked agammaglobulinemia (XLA). Unclassified hypogammaglobulinemia (HGG) was described in 22 patients (12.3%), IgG subclass deficiency (IGSCD) in 12 (6.7%), and specific antibody deficiency (SpAD) in 4 individuals (2.2%). The remaining four patients had a diagnosis of Good syndrome (thymoma with immunodeficiency). There was no significant difference between the age at diagnosis of the disorders, with the exception of XLA, with a median age at diagnosis of less than 1 year. The median age of reported symptom onset was 20 years for those with a diagnosis of CVID, with a median age at diagnosis of 35 years. CVID patients experienced significantly more non-infectious complications, such as autoimmune cytopenias and lymphoproliferative disease, than the other antibody deficiency disorders. The presence of non-infectious complications was associated with significantly reduced survival in the cohort.ConclusionOur data are largely consistent with the experience of other centers internationally, with clear areas for improvement, including reducing diagnostic delay for patients with PADs. It is likely that these challenges will be in part overcome by continued advances in implementation of genomic sequencing for diagnosis of PADs, and with that opportunities for targeted treatment of non-infectious complications.

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“…IgG subclass deficiency (IgGSD), a heterogeneous subtype of primary immunodeficiency, is defined as the triad of frequent or severe respiratory tract infection, one or more subnormal IgG subclass level(s) (�2 standard deviations below respective means) unexplained by other causes, and decreased IgG response to pneumococcal polysaccharides [19][20][21][22][23]. Many adults with IgGSD also have autoimmune condition(s) or atopy [21,[24][25][26]. IgGSD occurs in~1 in 10,000 persons [27].…”

Section: Introductionmentioning

confidence: 99%

Characterization of adult patients with IgG subclass deficiency and subnormal IgG2

Barton

Barton²,

Bertoli³

et al. 2020

PLoS ONE

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Background Adults with IgG subclass deficiency (IgGSD) with subnormal IgG2 are inadequately characterized. Methods We retrospectively analyzed observations in unrelated adults with IgGSD evaluated in a single hematology clinic (1991-2019) and selected those with subnormal serum IgG2 (<117 mg/dL (<1.2 g/L)) without corticosteroid therapy to describe: age; prevalence of women; upper/lower respiratory infection; autoimmune condition(s); atopy; other allergy; frequent or severe respiratory tract infection in first-degree relatives; IgG, IgG subclasses, IgA, and IgM; blood lymphocyte subpopulations; human leukocyte antigen (HLA)-A and-B types and haplotypes; and 23-valent pneumococcal polysaccharide vaccination (PPSV23) responses. We determined the prevalence of subnormal IgG2 among unrelated adults with IgGSD without corticosteroid therapy and compared general characteristics of those with and without subnormal IgG2. Results There were 18 patients (94.4% women) with subnormal IgG2. Mean age was 52 ± 11 y. Upper/lower respiratory infection occurred in 94.4%/74.8%, respectively. Autoimmune condition(s), atopy, other allergy, and frequent or severe respiratory infection in first-degree relatives occurred in 44.4%, 44.4%, 61.1%, and 22.2%, respectively. Median IgG2 was 105 mg/dL (83, 116). Subnormal IgG, IgG1, IgG3, IgG4, IgA, and IgM was observed in 66.7%, 50.0%, 100.0%, 5.6%, 33.3%, and 0%, respectively. Lymphocyte subpopulations were normal in most patients. HLA frequencies were similar in patients and controls. Three of 4 patients had no protective S. pneumoniae serotype-specific IgG levels before or after PPSV23. These 18 patients represent 7.6% of 236 adults with IgGSD. Prevalence of subnormal IgG, subnormal IgG3, and subnormal IgA was significantly greater in 18 adults with

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Comparisons of CVID and IgGSD: Referring Physicians, Autoimmune Conditions, Pneumovax Reactivity, Immunoglobulin Levels, Blood Lymphocyte Subsets, and HLA-A and -B Typing in 432 Adult Index Patients

Cited by 22 publications

References 58 publications

Selective subnormal IgG3 in 121 adult index patients with frequent or severe bacterial respiratory tract infections

Selective subnormal IgG3 in 121 adult index patients with frequent or severe bacterial respiratory tract infections

Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults

Characterization of adult patients with IgG subclass deficiency and subnormal IgG2

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