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 .

Diseases
Validation

Diseases presenting "vomiting" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital toxoplasmosis

cutaneous mastocytosis

dedifferentiated liposarcoma

esophageal squamous cell carcinoma

homocystinuria without methylmalonic aciduria

kallmann syndrome

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

severe combined immunodeficiency

systemic capillary leak syndrome

triple a syndrome

typhoid

von hippel-lindau disease

This symptom has already been validated