Hyper IgM Syndrome with low IgM and thrombocytosis: an unusual case of immunodeficiency.

Abstract

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.

• Authors: Ejaz Yousef, M Arshad Alvi
• Journal: European annals of allergy and clinical immunology (Eur Ann Allergy Clin Immunol) Vol. 48 Issue 5 Pg. 194-6 (Sep 2016) ISSN: 1764-1489 [Print] Italy
• PMID: 27608476 (Publication Type: Case Reports, Journal Article)

Chemical References

• Biomarkers
• Immunoglobulin M
• CD40 Ligand

Topics

• Biomarkers (blood)
• CD40 Ligand (blood, deficiency)
• Child, Preschool
• Humans
• Hyper-IgM Immunodeficiency Syndrome (blood, diagnosis, immunology, therapy)
• Immunoglobulin M (blood)
• Immunologic Tests
• Male
• Platelet Count
• Predictive Value of Tests
• Thrombocytosis (blood, diagnosis, immunology, therapy)