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1. Chronic granulomatous disease Dr. Abarna Thangaraj DM fellow Pediatric Immunology and Rheumatology Advanced Pediatric Centre PGIMER

2. INDEX CASE 1 / Male CHIEF COMPLAINTS :  Fever – 3 weeks Cough and cold – 5 days

3. 8 months – fever , respiratory distress Right middle lobe consolidation Treated as pneumonia 9months – fever , respiratory distress Requiring mechanical ventilation Staphylococcus in ET aspirate 1yr – fever for 3 weeks , no respiratory distress No vomiting / loose stools/ abdominal pain/ rash /seizure /abnormal movements

4. Examination Patient is conscious, oriented to time, place and person No Pallor/ icterus/ cyanosis/ clubbing/ lymphadenopathy Anthropometry: Vitals – stable Weight 10.8kg 0z to -1z ( normal ) Height 73cm -2z to -3z( normal )

5. INVESTIGATIONS Date Hb TLC DLC( N/L/M) PLTS 28/11 7.1 12960 43/50/6 3.12 30/11 6.8 11550 57/35/7 3.10

6. DATABASE 1yr old 1 st born out of second degree consanguineous marriage Recurrent episode of pneumonia Staphylococcal pneumonia Salmonella sepsis

7. QUESTIONS PID ?? How to investigate??

8. CASE 2

9. CHRONIC GRANULOMATOUS DISEASE CGD is an inherited disorder in which neutrophil’s phagocytic f u nction do not w ork p r op e r l y . Also known as Bridges–Good syndrome, a n d Q u ie synd r o me . It w a s f i r st r ec o gnized in 1 95 4 . TYPES OF CG D : CGD has 2 distinct fo r ms: X - lin k ed f o r m (70% of p a tients) A utoso m a l r ec e ssi v e fo r m

10. PATHOGENESIS

11. Pneumonia Adenitis Osteomyelitis Bacteremia / fungemia Abscess / soft tissue infection Gingivitis Gastric outlet obstruction Colitis Liver abscess Ureteral obstruction, bladder granuloma Granulomatous cystitis Autoimmunity HLH

12. Most common organisms Staphylococcus aureus Burkholderia sps Aspergillus sps Serratia marcescens Nocardia Salmonella Mycobateria Candida

13. Investigations Com p let e b l o od co u nt – Mild to moderate leucocytosis Elevated ESR and CRP CXR , CT chest N it r o b l u e tetraz o li u m test ( N B T ) / DHR Flow cytometry C y to c h r o m e C r ed u cti o n ass a y . Genetic analysis

14. NBT

15. DHR Neutrophils are stimulated by PMA (Phorbol-12-Myristate -13 Acetate) ------Hydrogen peroxide Hydrogen peroxide reduces DHR to rhodamine Flow cytometry – shift of curve to right ( fluorescence ) CGD – no shift Carriers – double peak

16. DHR   Dihydrorhodamine assay for chronic granulomatous disease:  (A)  Normal shift of fluorescence peak in a control.  (B)  No shift in a patient with CGD.  (C)  Bimodal expression in a female carrier of X-linked CGD. Neutrophils were gated on FSc vs. SSc plot and oxidative burst was evaluated on gated neutrophils.

17. B558 expression

18. Management