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

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy,10.1016/S0022-3476(82)80573-8,Journal of Pediatrics,B POWELL,N BU

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy   (Citations: 117)
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Journal: Journal of Pediatrics - J PEDIAT , vol. 100, no. 5, pp. 731-737, 1982
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    • ...Interestingly, patients with X-linked immune dysregulation, polyendocrinopathy and enteropathy syndrome caused by a mutation in Foxp3 have a selective defect in constitutive CD4+CD25+ Treg and often develop atopic dermatitis, elevated serum IgE levels and food allergy [...

    Reem Kanjarawiet al. Regulatory T Cells Control Type I Food Allergy to Beta-Lactoglobulin i...

    • ...Among the group of PID syndromes with the highest rate of association with autoimmune features (near 100% of association) there is the ‘‘immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome’’, known to be determined by different possible mutations of the transcription factor fork head box P3 (FoxP3) on Xp11.23 [31] . Another PID syndrome associated with AID in 20–80% of cases is the Hyper-IgM syndrome characterized by ...

    Pietro Invernizziet al. Female predominance and X chromosome defects in autoimmune diseases

    • ...Powell et al. [3] described a large family of five generations with multiple affected males...
    • ...Other manifestations occur less frequently, such as lymphadenopathy, hepatosplenomegaly, cholestatic hepatitis, nephropathy, hemolytic anemia, thrombocytopenia, neutropenia, seizures, sarcoidosis, vasculitis, arthralgia, and arthritis [3, 4, 8, 9, 10, 11, 13]...
    • ...The numbers of neutrophils and lymphocytes are normal, but eosinophilia is frequently observed [15 ]. Patients are able to make protective antibody responses to immunization [3], but studies are limited because most patients are treated with immunosuppressive drugs...
    • ...plasma cell infiltrates in the lamina propria [3, 6, 10, 21]; eosinophils may also be present [13]...
    • ...The thymus, often atrophic or dysplastic, cannot easily be distinguished from the mediastinal fat and may be depleted not only of lymphocytes but may also show an absence or severe reduction of Hassall’s corpuscles [3, 10, 14]...

    D. Moraes-Vasconceloset al. Primary Immune Deficiency Disorders Presenting as Autoimmune Diseases:...

    • ...Patients with the x-linked syndrome of immune dysregulation, polyendocrinopathy, and enteropathy (IPEX) often present with watery diarrhea that can lead to failure to thrive [16, 17]...

    Mark Ballow. Approach to the Patient With Recurrent Infections

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