Nazan Tokmeci, Turkey
Ege University Pediatric Allergy and Clinical ImmunologyPresenter of 1 Presentation
COMBINED IMMUNODEFICIENCY WITH MARGINAL ZONE LYMPHOMA DUE TO A NOVEL HOMOZYGOUS MUTATION IN IL21R GENE
Abstract
Background and Aims
Defects in the interleukin-21 receptor (IL-21R) gene are recently defined causes of primary immunodeficiency diseases. IL-21R defects result in combined immunodeficiency by affecting the functions of innate and adaptive immune system components.
Methods
A six year old girl was admitted to our hospital with complaints of chronic diarrhea that started after the newborn period and generalized rash over the last three months. At the age of 4 the patient had severe respiratory distress due to Cytomegalovirus (CMV) pneumonia requiring mechanical ventilation and diagnosed as combined immunodeficiency at another hospital. The physical examination on admission revealed erythematous rash on cheeks, extremities and gluteal region and lymphadenopathies in the cervical, axillary and inguinal regions. CMV DNA in plasma and Cryptosporidium parvum in stool were positive. Marginal zone lymphoma (Epstein-Bar virus negative) was detected in the lymph node biopsy. Targeted next generation sequencing Ion AmpliSeq™ primary ımmunodeficiency panel showed a novel homozygous IL21R c.132delC (p.Ser45fs) mutation.
Results
This case is presented to emphasize that IL21R defects should be considered in the differential diagnosis of the patients with recurrent respiratory infections, chronic diarrhea, Cryptosporidium parvum infection, chronic liver disease, sclerosing cholangitis and malignancy; and early hematopoietic stem cell transplantation (HSCT) is life saving.
Conclusions
A total of eight cases with IL21R gene defects have been reported in the world. The importance of this case is that it is the first case of malignancy among the IL-21R deficient patients published in the literature.