Indian Journal of Rheumatology

: 2020  |  Volume : 15  |  Issue : 3  |  Page : 223--225

Chronic granulomatous disease presenting with foot abscess caused by Serratia marcescens and autoimmune dactylitis

Sunil V Kapur, Jitendra S Oswal, Vibha Bafna, Vijay Viswanathan 
 Department of Pediatrics, Bharati Vidyapeeth University Medical College Hospital and Research Centre, Pune, Maharashtra, India

Correspondence Address:
Dr. Jitendra S Oswal
Department of Pediatrics, Bharati Vidyapeeth University Medical College Hospital and Research Centre, Pune, Maharashtra


Chronic granulomatous disease (CGD) is an inherited neutrophil phagocytic function disorder leading to recurrent infections, granuloma formations, and rarely autoimmune diseases. We report a case of genetically proven autosomal recessive CGD in a child with a mutation in NCF2 gene resulting in p67phox defect presenting with foot abscess caused by Serratia marcescens and autoimmune dactylitis at the same time. The case emphasizes the importance to consider a primary immunodeficiency in patients with musculoskeletal manifestations who develop unusual or opportunistic infections. We also hope awareness among pediatricians may lead to increased recognition of the autoimmune manifestations of CGD.

How to cite this article:
Kapur SV, Oswal JS, Bafna V, Viswanathan V. Chronic granulomatous disease presenting with foot abscess caused by Serratia marcescens and autoimmune dactylitis.Indian J Rheumatol 2020;15:223-225

How to cite this URL:
Kapur SV, Oswal JS, Bafna V, Viswanathan V. Chronic granulomatous disease presenting with foot abscess caused by Serratia marcescens and autoimmune dactylitis. Indian J Rheumatol [serial online] 2020 [cited 2021 Jan 17 ];15:223-225
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Full Text


Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder that results in defective phagocyte oxidative function responsible for generating reactive oxygen species.[1] Genetic analysis has revealed mutation in at least one of the five genes that encode the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex enzyme. CYBB gene mutation leading to a defective gp91phox results in X-linked CGD (XL-CGD). Mutations in CYBA, NCF-1, NCF-2, and NCF-4 result in autosomal recessive CGD (AR-CGD) due to deficiency of gp21phox, p47phox, p67phox, and p40phox proteins, respectively.[1],[2] CGD is genetically heterogeneous with XL-CGD being the most common type reported in developed countries, whereas AR-CGD is the most common subtype in countries with the high rates of consanguinity. The disease is characterized by recurrent bacterial and fungal infections with a predilection to catalase producing organisms. Autoimmune diseases have been reported to occur in approximately 10% of CGD patients in addition to infections and granuloma formation.[3] In this case report, an AR-CGD patient presenting with foot abscess caused by a catalase producing opportunistic organism Serratia Marcescens and autoimmune dactylitis at the same time is described.

 Case Report

A 4-year-old male child from Yemen, the second issue of a third-degree consanguineous marriage was admitted with a history of swelling of right foot and fingers of the left hand with multiple painful oral ulcers since 1 month. There was no history of fever, rash, morning stiffness, tuberculosis, or any other joint involvement. He had a significant history of multiple hospital admissions requiring prolonged parenteral antibiotic therapy. Birth history was not significant, and he was immunized as per schedule. His examination revealed failure to thrive, submandibular lymphadenopathy, hepatosplenomegaly, marked swelling and tenderness in the right mid-foot and dactylitis of all fingers (except thumb) of the left hand with restricted movements [Figure 1]. Investigations revealed anemia (hemoglobin = 8.8 g/dl), neutrophilic leukocytosis (white blood cell = 16,300/cmm n = 75%, L = 14%), normal absolute neutrophil count (12,225/cmm), normal absolute lymphocyte count (2282/cmm), and raised erythrocyte sedimentation rate (77 mm at the end of 1 h). HIV ELISA was negative. X-ray of the left hand revealed periarticular osteopenia with soft-tissue swelling which responded to naproxen. Magnetic resonance imaging of the right foot revealed soft-tissue swelling over dorsum of the first metatarsal and a developing abscess which was later drained. Pus culture grew S. marcescens for which appropriate antibiotics were given for 3 weeks. Excisional biopsy of the submandibular gland was suggestive of granulomatous necrotizing lymphadenitis [Figure 2]. GeneXpert test for Mycobacterium tuberculosis on lymph node tissue was negative. Serum immunoglobulin levels and lymphocyte subset analysis were normal. CGD was considered owing to the isolation of an unusual catalase producing organism S. marcesecens, granulomatous lymphadenitis with prior clinical history of multiple infections. The neutrophil oxidative burst function as assessed by dihydrorhodamine flow cytometry-based assay showed an abnormally low stimulation index of 0.56 (control 57.3%). Genetic testing confirmed a homozygous nonsense mutation in the NCF2 gene; c.574C>T causing P (GLN192Ter 77X) stop codon in p67phox protein which confirmed the diagnosis of AR-CGD. On discharge, antimicrobial prophylaxis (trimethoprim-sulfamethoxazole, fluconazole) and donor screening for bone marrow transplantation were initiated.{Figure 1}{Figure 2}


There is a paucity of data on the incidence of CGD in India, while the estimated prevalence in the western countries is 1 in 250,000.[4] Although the overall incidence of the disease is low, part of this may be attributed to a lack of clinical awareness of primary immunodeficiency (PID) and resourceful laboratories. Early diagnosis can lead to access to treatment including bone marrow transplantation and interferon therapy.

In addition to playing a critical role in microbial killing, the NADPH oxidase complex enzyme plays a protective role in inflammation and autoimmunity.[5],[6] Infection profile of 38 Indian children diagnosed to have CGD in a tertiary center isolated Staphylococcus aureus, Pseudomonas species as the most common causative bacteria, Aspergillus as the most common fungus and lung, liver and lymph nodes being the most common organs affected.[7] Children with XL-CGD presented earlier and had a greater number of infections as compared to AR-CGD.[7] In addition, Rawat et al. reported that S. marcescens was not isolated from any of the patients from the study. Our patient presented with right foot abscess due to S. marcescens with no evidence of any osteomyelitis. However, along with the foot abscess, he had autoimmune dactylitis as musculoskeletal manifestations. Clinically, the course of dactylitis in our patient was likely of autoimmune origin given the periarticular osteopenia on imaging, the prompt response to anti-inflammatory drug, and the complete resolution prior to introducing antimicrobial treatment.

Systemic lupus erythematosus, discoid lupus erythematosus, antiphospholipid syndrome, autoimmune thrombocytopenia, rheumatoid arthritis, IgA nephropathy, sarcoidosis, and celiac disease are reported manifestations in CGD.[3],[8],[9] Our patient is rare because not only did he have autoimmune arthritis, which is rare in CGD, but he also developed foot abscess by S. marcescens at the same time.

To the best of our knowledge, this is the first case reported from India with genetically proven AR-CGD presenting both with autoimmune dactylitis and foot abscess caused by S. marcescens at the same time. [Table 1] presents the case reports in literature looking at S. Marcescens, musculoskeletal manifestations, and CGD. It is to be noted that most of the reports are in XL-CGD, and none of the reports are from India.{Table 1}


This case illustrates that musculoskeletal manifestations can be one of the presenting features of a PID. It will also help in the early diagnosis of varied infective and autoimmune presentations of CGD.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.



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