Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ
Swan DJ., Aschenbrenner D., Lamb CA., Chakraborty K., Clark J., Pandey S., Engelhardt KR., Chen R., Cavounidis A., Ding Y., Krasnogor N., Carey CD., Acres M., Needham S., Cant AJ., Arkwright PD., Chandra A., Okkenhaug K., Uhlig HH., Hambleton S.