X-linked severe combined immunodeficiency due to a novel mutation complicated with hemophagocytic lymphohistiocytosis and presented with invagination: A case report.

[severe combined immunodeficiency]

Severe combined immunodeficiency (SCID ) is an inherited disease with profoundly defective T cells , B cells , and natural killer (NK ) cells . X-linked SCID (X-SCID ) is its most common form . In this report , we describe a 4 -month -old male with X-SCID who presented invagination and also showed hemophagocytic lymphohistiocytosis (HLH ). The patient was admitted to our hospital with fever , cough , vomiting , monoliasis , and hepatosplenomegaly in postoperative period at the age of 3 months . The laboratory finding revealed no detectable T cells and hypogammaglobulinemia despite normal B-cell counts . Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL )-2 receptor gamma chain gene (IL 2 RG ); namely , we detected the novel mutation in the splice-site of exon 5 (c .595 -1 G >T ). The patient died due to infection at the age of 4 months . Also , this case is the first report that describes the patient with X-SCID with presented invagination .