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

Ejaz Yousef; M. Arshad Alvi

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

Ejaz Yousef
, M. Arshad Alvi

KFSH&RC

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	194-196
Number of pages	3
Journal	European Annals of Allergy and Clinical Immunology
Volume	48
Issue number	5
State	Published - 1 Sep 2016
Externally published	Yes

Keywords

CD40L
hyper IgM

Cite this

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title = "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. ",

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T2 - an unusual case of immunodeficiency

AU - Yousef, Ejaz

AU - Arshad Alvi, M.

PY - 2016/9/1

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N2 - 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.

AB - 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.

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KW - hyper IgM

UR - https://www.scopus.com/pages/publications/85021853283

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AN - SCOPUS:85021853283

SN - 1764-1489

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SP - 194

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JO - European Annals of Allergy and Clinical Immunology

JF - European Annals of Allergy and Clinical Immunology

IS - 5

ER -

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

Abstract

Keywords

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