Hyper IgM Syndrome with low IgM and thrombocytosis: an unusual case of immunodeficiency.
We report a 5 years old male child with low serum IgG, IgA and IgM levels, who presented with recurrent perianal and oral ulcers, intermittent fever, and protracted diarrhea. Despite the lack of typical respiratory symptoms, low serum IgM level and persistent thrombocytosis, an X-linked hyper-IgM syndrome (X-HIGM) was considered. Laboratory investigations revealed a diagnosis of hyper-IgM syndrome caused by CD40L deficiency.
Nemours Children Specialty Care, Jacksonville, Florida, United States of America. E-mail: eyousef@nemours.org.
Ejaz
E
Yousef
KFSH&RC, Jeddah, Saudi Arabia.
M
M
Arshad Alvi
D015415:Biomarkers / Q000097:blood; D023201:CD40 Ligand / Q000097:blood / Q000172:deficiency; D002675:Child, Preschool; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000097:blood / Q000175:diagnosis / Q000276:immunology* / Q000628:therapy; D007075:Immunoglobulin M / Q000097:blood*; D007159:Immunologic Tests; D008297:Male; D010976:Platelet Count; D011237:Predictive Value of Tests; D013922:Thrombocytosis / Q000097:blood / Q000175:diagnosis / Q000276:immunology* / Q000628:therapy
D015415:Biomarkers; D007075:Immunoglobulin M; D023201:CD40 Ligand
CD40L; hyper IgM