Primary immunodeficiency with autoimmunity, two facets of same coin?-A novel case with therapeutic dilemma

Abstract

12 year female born of Grade 2 consanguineous marriage presented with history of painful swelling in the right axilla and neck for 2 months. She also had history of multiple joint pain involving small and large joints with early morning stiffness for 2 months. She had past history of treatment for tubercular cervical lymphadenitis (caseating granuloma in biopsy) at 4 years of age. She was immunized appropriate for her age. Her father and paternal aunt had psoriasis. On examination she had warm and tender subcutaneous swelling 2 × 2 cm in right axilla. Significant lymphadenopathy noted in right cervical and femoral region. Psoriatic plaque was noted over scalp and right retroauricular area.Musculoskeletal examination showed bilateral wrist, ankle arthritis and bilateral achilles tendinitis. On evaluation her hemoglobin 11 mg/dl, WBC count 19000 (N88%, L9%, M3%), platelet 665000 with neutrophilic leukocytosis and shift to left. Ultrasound of right axilla confirmed abscess. Incision and drainage of abscess was done. Pus culture grew S.aureus. She was diagnosed as psoriatic arthritis with axillary abscess and generalized significant lymphadenopathy. In view of abscess, generalized lymphadenopathy, leukocytosis and neutrophilia, PID workup was done. Her immunoglobulin levels were normal. Lymphocyte subset analysis showed reduced CD8+T lymphocytes. NBT activity was seen in 55% of stimulated neutrophils (90% in control sample). DHR assay (test done twice 2 weeks apart) showed markedly decreased Neutrophil oxidative burst. Cervical lymph node biopsy revealed granulomatous inflammation. CBNAAT of sample was negative for tuberculosis. Her genetic workup showed mutation for a novel missense variant c.908T>G in Exon 10 of NCF4 and carrier state in parents and her HLA typing was positive for HLACw6. She was diagnosed as chronic granulomatous disease with psoriatic arthritis. She received sulfamethoxazole/trimethoprim, itraconazole prophylaxis and treatment with methotrexate 7.5 mg/week for arthritis. Discussion1. CGD is associated with few autoimmune manifestations like colitis, arthritis etc. To the best of our knowledge, association with Psoriatic arthritis is not reported. 2. Treatment of our case has unique challenging issues as use of DMARDS for psoriatic arthritis may increase infection chance in preexisting CGD and use of steroids for granuloma may cause rebound flare of psoriasis.