Antibody deficiency in adults with 22q11.2 deletion syndrome

Björk, Aron H.; Óskarsdóttir, Sólveig; Åndersson, Bengt; Friman, Vanda

doi:10.1002/ajmg.a.35484

Cited by 26 publications

(20 citation statements)

References 28 publications

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“…Another contrast is the reported prevalence of immunoglobulin abnormalities in 22q11.2 deletion syndrome of 6% in recent studies 44,45 and 40% in older reports, 42,43 with the prevalence of 61% in our collected cohort. However, we only had information on immunoglobulin levels from 33 of 59 (56%) patients.…”

Section: Immunological Abnormalities Reported In Charge Syndromecontrasting

confidence: 97%

“…Björk et al 45 found that 6 of 26 adult patients (23%) had low immunoglobulin levels. Autoimmune diseases, like rheumatoid diseases and idiopathic thrombocytopenia purpura, are seen in approximately 10% of patients with 22q11.2 deletion syndrome, 46 whereas no autoimmune diseases were seen in the CHARGE syndrome patients, although 3 of 59 (5%) patients with CHARGE syndrome had an Omenn-like syndrome, which has autoimmune-like features.…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

“…42,43 Recent studies indicate that the antibody deficiency in 22q11.2 deletion syndrome is likely to be underestimated. 44, 45 Patel et al 44 have reported immunoglobulin deficiency in the largest cohort (n = 855) to date and concluded that 6% of the patients over the age of three had Abbreviations: A, choanal atresia or stenosis, including cleft palate since these anomalies rarely occur together; C, coloboma or microphthalmia; CN, cranial nerve dysfunction; d, day(s); E, ear anomalies; F, female; G, genital anomalies; H, heart anomalies; HL, hearing loss; HP, hypoplasia; M, male; mo, month(s); N, normal; n, number of patients; PCP, Pneumocysitis carnii pneumonia; R, retardation in development and/or growth; SCID, severe combined immune deficiency; SSC, semicircular canals anomalies; TE, tracheoesophageal defects; U, unknown; wg, weeks of gestation; wk, week(s); y, year(s); +, present;…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

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CHARGE syndrome: a review of the immunological aspects

et al. 2015

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CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been described, but are generally given little attention in studies on CHARGE syndrome. However, structured information on immunological abnormalities in CHARGE patients is necessary to develop optimal guidelines for diagnosis, treatment and follow-up in these patients. Here, we provide an overview of the current literature on immunological abnormalities in CHARGE syndrome. We also explore immunological abnormalities in comparable multiple congenital anomaly syndromes to identify common immunological phenotypes and genetic pathways that might regulate the immune system. Finally, we aim to identify gaps in our knowledge on the immunological aspects in CHARGE syndrome that need further study.

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Section: Immunological Abnormalities Reported In Charge Syndromecontrasting

confidence: 97%

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

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CHARGE syndrome: a review of the immunological aspects

et al. 2015

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“…Data support a CD4 T cell count of >500 cells per µl as being the lower limit for safe vaccine administration 135,146,205–207 . A small percentage of patients will develop antibody deficiencies 208 , but the patient characteristics that predispose to this condition are not yet clear; periodic monitoring seems prudent. Patients with hypogammaglobulinaemia can be treated with immunoglobulin replacement.…”

Section: Managementmentioning

confidence: 99%

22q11.2 deletion syndrome

McDonald‐McGinn

Sullivan

Marino

et al. 2015

Nat Rev Dis Primers

1,134

1,133

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22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.

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“…There have been several proposed mechanisms including altered regulatory T cell development in the face of limited thymic tissue, increased responses to self-antigens with homeostatic proliferation, and dysregulation due to lymphopenia (Di et al, 2015; Ferrando-Martinez et al, 2014; McLean-Tooke et al, 2007; Milner, Ward, Keane-Myers, & Paul, 2007; Sullivan, McDonald-McGinn, & Zackai, 2002; Tison et al, 2011). The most common autoimmune disease affecting 22q11.2 patients in childhood is idiopathic thrombocytopenic purpura, and the second most common in juvenile idiopathic arthritis (Bjork, Oskarsdottir, Andersson, & Friman, 2012; Gennery et al, 2002; McLean-Tooke et al, 2007). Platelet size and number are lower at baseline in most patients with the deletion, which may cause confusion with idiopathic thrombocytopenia purpura (Lawrence, McDonald-McGinn, Zackai, & Sullivan, 2003).…”

Section: Autoimmune Diseasementioning

confidence: 99%

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

Crowley

Ruffner

McDonald‐McGinn

et al. 2018

American J of Med Genetics Pt A

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The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described. The relationship of the immunodeficiency to the deletion breakpoints has been understudied due to the infrequent analysis of people carrying smaller deletions. This manuscript will review the immune deficiency in 22q11.2 deletion syndrome and describe differences in the T cell counts related to the deletion breakpoints. Distal, non-TBX1 inclusive deletions, were found to be associated with better T cell counts. Another new finding is the relative preservation of T cell counts in those patients with a 22q11.2 duplication.

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Antibody deficiency in adults with 22q11.2 deletion syndrome

Cited by 26 publications

References 28 publications

CHARGE syndrome: a review of the immunological aspects

CHARGE syndrome: a review of the immunological aspects

22q11.2 deletion syndrome

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

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