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Genes associated with multiple, unusual, or severe allergies

Genes associated with multiple, unusual, or severe allergies
Gene abbreviation Full gene name Inheritance Disorder name/phenotype*
CARD11 Caspase recruitment domain family member 11 AD Immunodeficiency-11B with atopic dermatitis
CARMIL2 Capping protein regulator and myosin 1 linker 2 AR Immunodeficiency 58
CTLA4 Cytotoxic T-lymphocyte-associated protein 4 AD Autoimmune lymphoproliferative syndrome (ALPS), type V
DOCK8 Dedicator of cytokinesis 8 AR Hyper-IgE recurrent infection syndrome 2
FOXP3 Forkhead box P3 XLR Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome
PGM3 Phosphoglucomutase 3 AR Immunodeficiency-vasculitis-myoclonus syndrome
SPINK5 Serine peptidase inhibitor, Kazal type 5 AR Netherton syndrome/ichthyosiform erythroderma with hypotrichosis and hyper-IgE
WAS Wiskott-Aldrich syndrome XLR Wiskott-Aldrich syndrome (WAS)/eczema, thrombocytopenia, and immunodeficiency
WIPF1 WAS/WASL-interacting protein family member 1 AR Wiskott-Aldrich syndrome 2
Clinical signs may be present that warrant evaluation for the presence of primary immunodeficiency. Please note that the above table is not comprehensive.
AD: autosomal dominant; AR: autosomal recessive; IgE: immunoglobulin E; XLR: X-linked recessive; OMIM: Online Mendelian Inheritance in Man.
* The phenotypic descriptions were derived from OMIM phenotype labels.
Graphic 119231 Version 3.0

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