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

Berkley R. Powell, Neil R M Buist, Peter Stenzel

Research output: Contribution to journalArticle

278 Citations (Scopus)

Abstract

We have studied a patient from a family in which 17 male infants died in the first years of life. The clinical characteristics of this disorder were established from information from eight patients. The features included diarrhea, diabetes mellitus, hemolytic anemia, eczematoid rashes, and exaggerated responses to viral illnesses, combined with pathologic evidence of autodestruction of endocrine glands, insulitis, and thyroiditis with thyroid autoantibodies in one patient. When tested, B-lymphocyte cell function, T cell numbers, polymorphonuclear leukocyte chemotaxis, and complement concentrations were normal. Lymphocyte stimulation with phytohemagglutinin was low in one of two affected males and delayed skin test anergy was noted in another, raising the question of a T-lymphocyte cell abnormality. The basic genetic mechanism is unknown, but involvement of an immune response locus on the X chromosome, dysfunction of which is responsible for overactivity of the autoimmune system, is postulated.

Original languageEnglish (US)
Pages (from-to)731-737
Number of pages7
JournalThe Journal of Pediatrics
Volume100
Issue number5
DOIs
StatePublished - 1982

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Leukocyte Chemotaxis
Endocrine Glands
T-Lymphocytes
Thyroiditis
Hemolytic Anemia
X Chromosome
Phytohemagglutinins
Lymphocyte Activation
Exanthema
Skin Tests
Autoantibodies
Diarrhea
Diabetes Mellitus
Thyroid Gland
Neutrophils
B-Lymphocytes
Cell Count
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. / Powell, Berkley R.; Buist, Neil R M; Stenzel, Peter.

In: The Journal of Pediatrics, Vol. 100, No. 5, 1982, p. 731-737.

Research output: Contribution to journalArticle

Powell, Berkley R. ; Buist, Neil R M ; Stenzel, Peter. / An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. In: The Journal of Pediatrics. 1982 ; Vol. 100, No. 5. pp. 731-737.
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