Findings on preliminary and advanced studies consistent with IPEX

Study	Findings
Preliminary laboratories
Complete blood count with differential	Eosinophilia, cytopenias
Serum glucose + anti-islet antibodies	Refractory type 1 diabetes mellitus
Thyroid function tests + antithyroid antibodies	Immune-mediated thyroiditis
Antienterocyte antibody	May be present in autoimmune enteropathy
IgE	Elevated
IgA, IgM, IgG	IgA may be elevated, others usually normal
RAST for food antigens	Elevated
T and B cell subsets	Usually normal
T cell proliferation	Usually normal
Advanced studies
FOXP3 gene sequencing	Mutations establish definitive diagnosis
Endoscopic biopsy	Villous atrophy with lymphocyte infiltration
Skin biopsy	Lymphocytic infiltration
Treg quantitative and functional studies	Treg deficiency

IPEX: immune dysregulation, polyendocrinopathy, enteropathy, X-linked; IgE: immunoglobulin E; IgA: immunoglobulin A; IgM: immunoglobulin M; IgG: immunoglobulin G; RAST: radioallergosorbent tests; FOXP3: forkhead box P3 transcription factor; Treg: regulatory T cell subset.

Graphic 66990 Version 4.0

خرید پکیج

Findings on preliminary and advanced studies consistent with IPEX