(Q37081019)

18 August 2017

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title

Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. (English)

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18 August 2017

D Moraes-Vasconcelos

1

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18 August 2017

B T Costa-Carvalho

series ordinal

2

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18 August 2017

T R Torgerson

series ordinal

3

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18 August 2017

H D Ochs

series ordinal

4

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18 August 2017

publication date

9 February 2008

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Journal of Clinical Immunology

18 August 2017

published in

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18 August 2017

volume

28 Suppl 1

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18 August 2017

page(s)

S11-9

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https://scigraph.springernature.com/pub.10.1007/s10875-008-9176-5

18 August 2017

exact match

0 references

cites work

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10875-008-9176-5

AIRE deficiency in thymus of 2 patients with Omenn syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10875-008-9176-5

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing

21 January 2018

1 reference

12 December 2020

Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).

1 reference

12 December 2020

Hassall's corpuscles instruct dendritic cells to induce CD4+CD25+ regulatory T cells in human thymus

1 reference

12 December 2020

The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components

1 reference

12 December 2020

Identification of tryptophan hydroxylase as an intestinal autoantigen

1 reference

12 December 2020

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance

1 reference

12 December 2020

A central role for central tolerance

1 reference

12 December 2020

Positional cloning of the APECED gene

1 reference

12 December 2020

Lung disease associated with IgG subclass deficiency in chronic mucocutaneous candidiasis

1 reference

12 December 2020

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

1 reference

12 December 2020

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity

1 reference

12 December 2020

Leukocyte myeloperoxidase deficiency and disseminated candidiasis: the role of myeloperoxidase in resistance to Candida infection

1 reference

12 December 2020

Histidine decarboxylase, a pyridoxal phosphate-dependent enzyme, is an autoantigen of gastric enterochromaffin-like cells

1 reference

12 December 2020

Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice

1 reference

12 December 2020

Modulation of Aire regulates the expression of tissue-restricted antigens

1 reference

12 December 2020

The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers

1 reference

12 December 2020

Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease

1 reference

12 December 2020

Invasive fungal infections in patients with chronic mucocutaneous candidiasis

1 reference

12 December 2020

The syndrome of familial juvenile hypoadrenocorticism, hypoparathyroidism and superficial moniliasis

1 reference

12 December 2020

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

1 reference

12 December 2020

Characterization of the cellular immune function of patients with chronic mucocutaneous candidiasis

1 reference

12 December 2020

A POSSIBLE AUTOIMMUNE BASIS FOR ADDISON'S DISEASE IN THREE SIBLINGS, ONE WITH IDIOPATHIC HYPOPARATHYROIDISM, PERNICIOUS ANEMIA AND SUPERFICIAL MONILIASIS

1 reference

12 December 2020

Expression of AIRE gene in peripheral monocyte/dendritic cell lineage

1 reference

12 December 2020

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

1 reference

12 December 2020

A potential screening tool for IPEX syndrome.

1 reference

12 December 2020

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

1 reference

12 December 2020

Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome

1 reference

12 December 2020

Clinical and molecular findings in IPEX syndrome

1 reference

12 December 2020

Chronic mucocutaneous candidiasis. I. Altered antigen-stimulated IL-2, IL-4, IL-6 and interferon-gamma (IFN-gamma) production

1 reference

12 December 2020

FOXP3 acts as a rheostat of the immune response

1 reference

12 December 2020

Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I

1 reference

12 December 2020

Chronic Moniliasis Associated with Addison's Disease

1 reference

12 December 2020

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

1 reference

12 December 2020

A remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domain.

1 reference

12 December 2020

Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection

1 reference

12 December 2020

IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena

1 reference

12 December 2020

AIRE and APECED: molecular insights into an autoimmune disease

1 reference

12 December 2020

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

1 reference

12 December 2020

Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self.

1 reference

12 December 2020

An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family

1 reference

12 December 2020

X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

1 reference

12 December 2020

Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction

1 reference

12 December 2020

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

1 reference

12 December 2020

Isolation and characterization of the mouse Aire gene

1 reference

12 December 2020

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: a case report and review of the literature

1 reference

12 December 2020

AIRE functions as an E3 ubiquitin ligase

1 reference

12 December 2020

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

1 reference

12 December 2020

Crucial role of FOXP3 in the development and function of human CD25+CD4+ regulatory T cells

1 reference

12 December 2020

Projection of an immunological self shadow within the thymus by the aire protein

1 reference

12 December 2020

A history of pediatric immunology

1 reference

12 December 2020

Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

1 reference

12 December 2020

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

1 reference

12 December 2020

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

1 reference

12 December 2020

1 reference

12 December 2020

What's new in the Aire?

1 reference

12 December 2020

Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).

1 reference

12 December 2020

Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.

1 reference

12 December 2020

Immune abnormalities associated with chronic mucocutaneous candidiasis

1 reference

12 December 2020

Impairment of chemotactic activity of microphages in chronic mucocutaneous candidosis

1 reference

12 December 2020

Regulatory T cells in primary immunodeficiency diseases

1 reference

12 December 2020

Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase

1 reference

12 December 2020

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

1 reference

12 December 2020

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

1 reference

12 December 2020

Foxp3 in control of the regulatory T cell lineage

1 reference

12 December 2020

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

1 reference

12 December 2020

Leukocyte myeloperoxidase deficiency and diabetes mellitus associated with Candida albicans liver abscess

1 reference

12 December 2020

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

1 reference

12 December 2020

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

1 reference

12 December 2020

Production of T-helper cell subsets and cytokines by lymphocytes from patients with chronic mucocutaneous candidiasis.

1 reference

12 December 2020

Chronic mucocutaneous candidosis associated with hypothyroidism: a distinct syndrome?

1 reference

12 December 2020

Frequent occurrence of asplenism and cholelithiasis in patients with autoimmune polyglandular disease type I

1 reference

12 December 2020

Immunodeficiencies in chronic muco-cutaneous candidosis.

1 reference

12 December 2020

Polyglandular autoimmune syndrome type I among Iranian Jews

1 reference

12 December 2020

AIRE deficiency in thymus of 2 patients with Omenn syndrome

1 reference

12 December 2020

A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.

1 reference

12 December 2020

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

1 reference

12 December 2020

Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency.

1 reference

12 December 2020

10.1007/S10875-008-9176-5

Identifiers

DOI

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18 August 2017

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