Definition

A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.

Synonyms

CID due to PGM3 deficiency
combined immunodeficiency due to PGM3 deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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immunodeficiency 23

immunodeficiency 23

Associated Genes

Associated Alleles

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