Author/Authors :
Gorjipour, Hoshang Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Eslamyan, Golnaz Department of Pediatrics - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Mesdaghi, Mehrnaz Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Mansouri, Mahboubeh Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Karimi, Abdollah Pediatric Infections Research Center - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Eshghi, Payman Department of Pediatric Hematology and Oncology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Babaie, Delara Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Amirmoeni, Mehrdad Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Bashardust, Bahram Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Shakiba, Marjan Department of Endocrinology and Metabolism - Mofid Children Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Chavoshzadeh, Zahra Department of Allergy and Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran
Abstract :
Nijmegen breakage syndrome is a rare autosomal recessive congenital disorder causing chromosomal instability, characterized by
short stature, microcephaly, distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual
disability, and other health problems. People with Nijmegen breakage syndrome have immunodeficiency. Some patients with
ataxia telangiectasia-like syndromes (about 10%) have decreased serum IgA and IgG levels with normal or raised IgM level, a phenotype
reminiscent of hyper IgM syndrome, which is due to class switch recombination defect. The case presented in this report was
an eight-year-old female with related parents, who had been admitted to the hospital several times with recurrent infections (pneumonia
and sinusitis). In immunological workups, she had high IgM, low IgG, and IgA levels. According to high -fetoprotein level
and her microcephaly, Nijmegen breakage syndrome was suggested. She was receiving IVIg monthly for two years, when she developed
hypersplenism and pancytopenia. Her bone marrow aspiration and biopsy was reported normal twice. The patient underwent
Rituximab therapy (375mg/m2) weekly for four weeks, with good response and improvement of splenomegaly and pancytopenia.
Class switch recombination defects should be considered in patients with ataxia telangiectasia variants, especially when they have
hyper IgM phenotype, and if they present lymphoproliferation, Rituximab therapy could be an effective treatment.
