polyendocrinopathy

pol·y·en·do·crin·op·athy

(pol'ē-en'dō-krĭ-nop'ă-thē),
A disease usually caused by insufficiency of multiple endocrine glands. See: multiple endocrine deficiency syndrome.

pol·y·en·do·crin·op·a·thy

(pol'ē-en'dō-kri-nop'ă-thē)
A disease usually caused by insufficiency of multiple endocrine glands.
See also: multiple endocrine deficiency syndrome

pol·y·en·do·crin·op·a·thy

(pol'ē-en'dō-kri-nop'ă-thē)
A disease usually caused by insufficiency of multiple endocrine glands.
References in periodicals archive ?
Mecanismos de dano inmunologico en la candidiasis mucocutanea cronica Abreviaturas: CARD9: caspase recruitment domain family member 9, BCL10: B cell leukaemia/lymphoma 10, MALT10: mal regulon transcriptional activator 10, RORC: related orphan receptor C, STAT1: signal transducer and activator of transcription 1, STAT3: signal transducer and activator of transcription 3, NFkB: nuclear factor kappa B, IL-17F: interleukin 17F, APS1/APECED: autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
In fact, mutations in this gene cause autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APEC-ED), which is one of the few known monogenic autoimmune diseases where patients suffer from both endocrine and non-endocrine manifestations.
Ramsdell et al., "The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3," Nature Genetics, vol.
Inclusion criteria Exclusion criteria Age between 18 and 60 years Currently using pharmacological (e.g., hormone replacement therapy) or supplementation treatment to influence VD metabolism Caucasian ethnicity Disease influencing calcium metabolism, polyendocrinopathy or autoimmune disease and other causes of secondary hyperparathyroidism* BMI >40 kg/[m.sup.2] or 35-40 History of cancer kg/[m.sup.2] with obesity-associated comorbidity Availability and willingness to Prior head or neck surgery comply with 18-month outpatient follow-up Availability and willingness to Prior abdominal or bariatric have blood samples tested for surgery calcium, 25-hydroxy vitamin D, and PTH levels.
Some cases occur as part of a recognized syndrome--for example, the syndrome of immunodysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX syndrome) caused by a mutation in the FOXP3 gene, (47) and the autoimmune polyglandular syndrome, involving a diverse array of symptoms, such as autoimmune phenomena, polyendocrinopathy, candidiasis, and ectodermal dystrophy.
These cells have a relevant role in autoimmune diseases, and their congenital deficiency (due to mutations in the FOXP3 gene) is associated with the IPEX syndrome, characterized by immune dysregulation, autoimmune polyendocrinopathy, and inflammatory enteropathy [8].
A group of Japanese researchers noted that [CD4.sup.+][CD25.sup.+][CD127.sup.low] T cells isolated from IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) patients also exhibited appreciable suppressive activity, although less than that exhibited by Treg cells from healthy controls.
CMC may be the single or coexisting infectious condition in some other PID syndromes such as autosomal recessive (AR) autoimmune polyendocrinopathy syndrome type I (AR AIRE mutations), autosomal dominant (AD) hyper IgE syndrome (AD STAT3 mutations), AR caspase recruitment domaincontaining protein 9 (CARD9) deficiency with invasive fungal diseases, AR IL12 receptor-beta1, and IL12-p40 deficiency causing susceptibility to mycobacterial diseases.
The most common diseases showing findings of autoimmunity included immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (16.7%); autoimmune lymphoproliferative syndrome (10%); lipopolysaccharide-responsive beige-like anchor protein deficiency (10%); and DiGeorge syndrome (10%).
There is substantial clinical variability between patients with GoF STAT3 mutations and also overlap in phenotype with other monogenic autoimmune disorders such as immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome (MIM: 304790) resulting from hemizygous loss-of-function forkhead box P3 (FOXP3) mutations, and also early-onset polygenic autoimmune disease.
TABLE Differential Diagnosis of Atopic Dermatitis Autosomal recessive hyperimmunoglobulin E syndrome (AR-HIES) Benign cephalic histiocytosis Contact dermatitis (irritant or allergic; consider bathing products, moisturizers) Cutaneous T-cell lymphoma Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome Langerhans cell histiocytosis Netherton syndrome (severe erythroderma, failure to thrive) Nummular dermatitis Psoriasis (rash in napkin distribution, which is not typical for atopic dermatitis) Pediatric herpes simplex virus infection Scabies (papular and nodular, affecting palm and sole) Seborrheic dermatitis Severe combined immunodeficiency (SCID) Staphylococcus aureus infection Wiskott-Aldrich syndrome (bleeding disorder, low platelet count) Zinc deficiency
TABLE Differential Diagnosis of Atopic Dermatitis Autosomal recessive hyperimmunoglobulin E syndrome (AR-HIES) Benign cephalic histiocytosis Contact dermatitis (irritant or allergic; consider bathing products, moisturizers) Cutaneous T-cell lymphoma Immunodysregulafion, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome Langerhans cell histiocytosis Netherton syndrome (severe erythroderma, failure to thrive) Nummular dermatitis Psoriasis (rash in napkin distribution, which is not typical for atopic dermatitis) Pediatric herpes simplex virus infection Scabies (papular and nodular, affecting palm and sole) Seborrheic dermatitis Severe combined immunodeficiency (SCID) Staphylococcus aureus infection Wiskott-Aldrich syndrome (bleeding disorder, low platelet count) Zinc deficiency