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

Producción científica › revisión exhaustiva

Resumen

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.

Idioma original	English
Páginas (desde-hasta)	194-196
Número de páginas	3
Publicación	European Annals of Allergy and Clinical Immunology
Volumen	48
N.º	5
Estado	Published - 1 sept 2016
Publicado de forma externa	Sí

Otros archivos y enlaces

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

Citar esto

@article{b28e72374f934d5c85ecdff5a7cb962e,

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. ",

keywords = "CD40L, hyper IgM",

author = "Ejaz Yousef and \{Arshad Alvi\}, M.",

year = "2016",

month = sep,

day = "1",

language = "English",

volume = "48",

pages = "194--196",

journal = "European Annals of Allergy and Clinical Immunology",

issn = "1764-1489",

publisher = "EDRA SpA",

number = "5",

}

TY - JOUR

T1 - Hyper IgM Syndrome with low IgM and thrombocytosis

T2 - an unusual case of immunodeficiency

AU - Yousef, Ejaz

AU - Arshad Alvi, M.

PY - 2016/9/1

Y1 - 2016/9/1

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.

KW - CD40L

KW - hyper IgM

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

M3 - Article

C2 - 27608476

AN - SCOPUS:85021853283

SN - 1764-1489

VL - 48

SP - 194

EP - 196

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

Resumen

Otros archivos y enlaces

Huella

Citar esto