P370 Severe neutropenia in ADA2 deficiency. (June 2019)

• Record Type: Journal Article
• Authors: Sara S, KILIC; Cekic, Sukru; Karali, Yasin
• Is Part Of: Archives of disease in childhood. Volume 104:Supplement 3(2019)
• Page Start: A304
• Page End: A304
• Publication Date: 2019-06
• Subjects: Infants -- Diseases -- Periodicals; Newborn infants -- Diseases -- Periodicals; Fetus -- Diseases -- Periodicals; 618.920105
• DOI: 10.1136/archdischild-2019-epa.716
• Languages: English
• ISSNs: 1359-2998

Abstract

Abstract : Introduction: Adenosine deaminase deficiency type 2 (ADA2) is an autosomal recessive disorder caused by loss of function (LOF) mutation in ADA2 . It is characterized by early onset vasculopathy, livedo racemosa, mild immunodeficiency, systemic and CNS manifestations.. The first described monogenic vasculitis is ADA2 deficiency. Here, we described a girl with ADA2 deficiency who suffered from severe neutropenia and transient cerebral ischemic attacks. Case: A seventeen years old female patient presented with recurrent fever, lymphadenopathy, gingivitis, loss of teeth, and recurrent skin infections when she was 2 years old. Physical examination revealed multiple lymphadenomegalies on the submandibular and submental area andhepatosplenomegaly. Laboratory examination revealed neutropenia (532/µL) . Excisional biopsy taken from submandibular lymph node showed non-specific reactive changes in the lymph node. Bone marrow biopsy was normal except for decreased myeloid series. HAX1, ELA2 defects were excluded by Garmehausen's laboratory. G-CSF was started as 5 micrograms/kg/day because of recurrent aphthous stomatitis and skin abscess. At the age of 15, she had recurrent syncope attacks. The evaluation of cardiovascular and neurologic systems were normal. The cranial MRI was normal. A frameshift mutation (p.Arg49Alafs) was detected in CECR1 gene by kindly Raif Geha's lab. Adalimumab treatment was started 40 mg (SC) every 2 weeks.. Her syncope attacks lost following adalimumab treatment, but neutropenia has sustained. Discussion: ADA2 deficiency is a rare and multifaced vasculitic syndrome. Neutropenia is extremely rare manifestation of this illness. Although our patient did not have livedoid skin rash, she had transient ischemic attacks of the brain suggesting cerebral vascuitis. As a conclusion, ADA2 deficiency should be considered in cases with neutropenia, lymphoid hyperplasia and cerebral vasculitis. Adalimumab is an effective agent to prevent cerebral ischemic attacks.