Primary Immune Deficiency Disorders Presenting as Autoimmune Diseases: IPEX and APECED

Moraes-Vasconcelos, Dewton; Costa-Carvalho, B. T.; Torgerson, Troy R.; Ochs, Hans D.

doi:10.1007/s10875-008-9176-5

Cited by 103 publications

(82 citation statements)

References 76 publications

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“…Studies have shown an association between immunodeficiency syndromes in childhood and the later development of autoimmune disorders (32). IgA deficiency, the most common primary immunodeficiency with a prevalence of 1 per 500-700 among Europeans, is associated with both systemic and organspecific autoimmune diseases (33).…”

Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Lima

Abrahamsen

Wolff

et al. 2011

European Journal of Endocrinology

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Objective: To characterize the endocrine and autoimmune disturbances with emphasis on parathyroid dysfunction in patients with 22q11.2 deletion syndrome (22q11.2 DS). Design: In this nationwide survey; 59 patients (age 1-54 years) out of 86 invited with a 22q11.2 DS were recruited through all the genetic institutes in Norway. Methods: Data was collected from blood tests, medical records, a physical examination and a semistructured interview. We registered autoimmune diseases and measured autoantibodies, hormone levels and HLA types. Results: Twenty-eight (47%) patients had hypoparathyroidism or a history of neonatal or transient hypocalcemia. Fifteen patients had neonatal hypocalcemia. Fourteen patients had permanent hypoparathyroidism including seven (54%) of those above age 15 years. A history of neonatal hypocalcemia did not predict later occurring hypoparathyroidism. Parathyroid hormone levels were generally low indicating a low reserve capacity. Twenty-eight patients were positive for autoantibodies. Six (10%) persons had developed an autoimmune disease, and all were females (P!0.02). Hypoparathyroidism correlated with autoimmune diseases (P!0.05), however, no antibodies were detected against the parathyroid glands. Conclusions: Hypoparathyroidism and autoimmunity occur frequently in the 22q11.2 DS. Neonatal hypocalcemia is not associated with later development of permanent hypoparathyroidism. Hypoparathyroidism may present at any age, also in adults, and warrants regular measurement of calcium levels. Hypoparathyroidism and autoimmunity occur frequently together. Our findings of autoimmune diseases in 10% of the patients highlight the importance of stringent screening and follow-up routines.

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Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Lima

Abrahamsen

Wolff

et al. 2011

European Journal of Endocrinology

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“…En effet, des souris invalidées, ou présentant des mutations de STAT5, présentent un déficit en lymphocytes Treg qui est associé à une auto-immunité [12]. L'existence des cellules Treg a également été montrée chez l'homme [13,14] et des mutations dans le gène de FoxP3 entraînent l'absence de ces cellules et un syndrome auto-immun sévère (syndrome d'immunodérégulation, polyendocrinopathie, enté-ropathie auto-immune liée au chromosome X, ou IPEX) [15]. Le rôle du système IL-2 dans le développement des cellules Treg a été fortement suggéré par plusieurs études montrant que des patients, porteurs de mutations touchant le gène de l'IL-2Rα (CD25) et chez lesquels le récepteur CD25 n'est pas exprimé, présentent des désordres immunitaires semblables à ceux observés chez les souris, dont des manifestations auto-immunes, une lymphadénopathie et des infections virales persistantes [16].…”

Section: (➜)unclassified

Le renouveau de l’interleukine 2

Jacques¹,

Mortier²

2016

Med Sci (Paris)

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“…As an example, T1D represents a major component of the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome [1][2][3] that affects patients with abrogated Treg cell function due to mutations in the FOXP3 gene [4][5][6]. Studies have been performed in adult non-obese diabetes (NOD) mice with transgenic expression of the β-cellreactive BDC2.5 T cell receptor (TCR) on CD4 + T cells and the human diphtheria toxin receptor (DTR) selectively in Foxp3 + Treg cells.…”

Section: Introductionmentioning

confidence: 99%

Targeted Antigen Delivery to DEC-205⁺Dendritic Cells for Tolerogenic Vaccination

Petzold¹,

Schallenberg²,

Stern³

et al. 2012

Rev Diabet Stud

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■ AbstractDendritic cells (DCs) and Foxp3-expressing CD4 + regulatory T (Treg) cells play non-redundant roles in the maintenance of peripheral tolerance to self-antigens, thereby preventing fatal autoimmunity. A common hallmark of intra-and extrathymic Treg cell lineage commitment is the induction of Foxp3 expression as a consequence of appropriate T cell receptor engagement with MHC class II:agonist ligand. It has now become increasingly clear that agonist ligand presentation by immature DCs in the steady state induces T cell tolerance by both recessive and dominant mechanisms, rather than promoting productive T helper cell responses. In this context, the ability of steady-state DCs to promote the extrathymic conversion of initially naïve CD4 + Foxp3 -T cells into Foxp3 + Treg cells is of particular interest as it provides novel perspectives to enhance antigen-specific Treg cell function in clinical settings of unwanted immunity, such as β-cell autoimmunity.

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Primary Immune Deficiency Disorders Presenting as Autoimmune Diseases: IPEX and APECED

Abstract: Reviewing recent advances in our understanding of the small subgroup of PIDD patients with defined causes for autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.

Cited by 103 publications

References 76 publications

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Le renouveau de l’interleukine 2

Targeted Antigen Delivery to DEC-205⁺Dendritic Cells for Tolerogenic Vaccination

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Primary Immune Deficiency Disorders Presenting as Autoimmune Diseases: IPEX and APECED

Abstract: Reviewing recent advances in our understanding of the small subgroup of PIDD patients with defined causes for autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.

Cited by 103 publications

References 76 publications

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Le renouveau de l’interleukine 2

Targeted Antigen Delivery to DEC-205+Dendritic Cells for Tolerogenic Vaccination

Contact Info

Product

Resources

About

Targeted Antigen Delivery to DEC-205⁺Dendritic Cells for Tolerogenic Vaccination