Abstract

Systemic onset Juvenile Idiopathic Arthritis (SJIA) is defined as a systemic inflammatory disease. Innate immune system dysregulation and systemic inflammation are the autoinflammatory pathogenesis of this disease. The clinical manifestations are fever, arthritis, lymphadenopathy, rash, and serositis. Of the manifestation of immune deficiency is recurrent otitis media. Recurrent otitis media should be evaluated for immune components. In this report, we presented a boy with recurrent otitis media, pain and swelling in both knees, and fever which fever was exacerbated at nights and he had no fever during day. After immune system evaluations, autosomal recessive agammaglobulinemia was observed in genetic test.

Keywords: Systemic onset juvenile idiopathic arthritis; Agammaglobulinemia; Immune deficiency.

Citation: Shashaani N, Rahmani K, Zeinab Mirzaee A, Javadi Parvaneh V, Shiari S, et al. Systemic onset juvenile idiopathic arthritis associated with Agammaglobulinemia: A Brief Report. J Clin Images Med Case Rep. 2023; 4(11): 2698.

Introduction

Systemic onset Juvenile Idiopathic Arthritis (SJIA) is a type of juvenile idiopathic arthritis that is presented in children younger than 16 years with fever for at least 3 consecutive days for 2 weeks. Arthritis, generalized lymphadenopathy, erythematous rash, splenomegaly, hepatomegaly, or serositis are other manifestation of SJIA [1]. SJIA has some auto-inflammatory features [2,3]. The innate immune system has an important role in the pathophysiology of SJIA. A significant increase is seen in myeloid cells in the blood samples of patients with SJIA [4,5]. Also, inflammatory markers and cytokines are elevated in SJIA [6]. Genetic abnormalities in the context of SJIA causes disturbance in immunity factors (such as interleukins of 1,6,10, and 17) and induce SJIA [7-9].

Recurrent external otitis can be a manifestation of immune deficiency in children [10]. It was defined that immune deficiency due to genetic disorder in children may cause recurrent acute otitis media [10,11]. In this report, we presented a one-year old boy who had pain and swelling in both knees with lack of growth and a history of recurrent episodes of acute otitis media, that was diagnosed as SJIA, finally.s

Case presentation

One-year-old boy was referred to hospital for pain and swelling in both knees, lack of height and weight growth, nocturnal fever, and illness during the night. During the day there were no presentations of illness or fever. On physical examination, neurodevelopmental disorder was found but there were no manifestations of serositis, splenomegaly, or pericarditis. Laboratory study was done and an iron deficiency anemia accompanying minor beta thalassemia was found. Laboratory findings are seen in Table 1. Bone scan and bone marrow aspiration were done and both were normal. Systemic onset juvenile arthritis was diagnosed based on history, physical, and laboratory exams.

The patient had a history of recurrent acute otitis media with infiltration. So, an immune deficiency work-up was performed on him and his immunoglobulin level was low (Table 1). Then, a genetic test was done on him and autosomal recessive agammaglobulinemia was reported (Table 2).

SJIA treatment and IVIG (for treatment of autosomal recessive agammaglobulinemia) was administered to him and finally the patient was discharged in a good condition.

Table 1: The results of laboratory tests.

Discussion

Our case was a one-year old boy with an inflammatory presentation including joint involvement and fever. He also had immune deficiency manifestations including recurrent acute otitis media and low levels of immunoglobulin. Finally, autosomal recessive agammaglobulinemia was found in tests.

Agammaglobulinemia is an inherited and rare immunodeficiency disease. Absent or low mature B cells, severe antibody deficiency, and relapsing or recurrent infections are the manifestations of agammaglobulinemia [12]. About 15% of agammaglobulinemia are autosomal recessive [13]. Our patient had recurrent infectious disease as recurrent otitis media that this presentation suspected us to immune deficiency. Administration of IV immunoglobulins (IVIG) is one of the way for increasing quality of life and life expectancy of patients with agammaglobulinemia [14]. We prescribed IVIG for our patient and his manifestation was improved after IVIG.

SJIA is an inflammatory disorder that may present in children with 1 to 2 years old [15]. In some studies the mean age of SJIA was ranged 2.3-9.4 [16,17]. High grade fever is one of the most common presentations of SJIA. SJIA has overlapping manifestation with other rheumatologic and infectious diseases and malignant malignancies. So, different laboratory studies are needed for differentiation of this disease from other disorder [18-20]. In this case, we performed several test to diagnose SJIA as mentioned in the Table 1. Our case had nocturnal fever and this manifestation was interesting because we didn’t find similar fever presentation report, based on our knowledge.

The most common involved joint in SJIA is knee, ankle, elbow, hip, or wrist. About one-third of patients have hepatosplenomegaly [21]. Our case had knee involvement but hepatosplenomegaly didn’t occur.

Conclusion

As a conclusion, in children with fever and arthritis, SJIA is one of the differential diagnosis and physicians should be aware about the manifestations of immune deficiency such as recurrent infections. In these cases, performing immunologic and genetic tests are needed because the patients may have an underlying genetic disorder cause immune deficiency, such as our case.

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