1. Suspected IFNγ receptor deficiency dr. László Vaszil Buda Children’s Hospital Budapest, Hungary

2. 1/9 Prologue: History The patient was born in 1985 Her family had no special diseases, no death of unknown cause She has no sibling She has no history of any serious diseases and has normal BCG scar

3. 2/9 First act: (May 2000) I. Fever, extensive bilateral pneumonia unresponsive to combined / broad spectrum antibiotics progression Serology: Mycoplasma pneumoniae: doubtful, 5 days later positive Chlamydia pneumoniae, Legionella, Aspergillus, Candida, Adenovirus, CMV, EBV: negative Bronchoscopy: negative, culture: negative, PCR for Mycobacterium tuberculosis: positive Mantoux test: negative Gastric lavage for Mycobacteria: negative

4. 3/9 Intravenous Rifampicin therapy regression of the pneumonia 10 days after the initiation of Rifampicin bilateral submandibular lymph node enlargement appeared which lasted for 6 days. By the hematologist’s opinion it was part of the infection (reactive lymphadenitis) After 18 days of hospitalisation, the patient was emitted in good overall condition with no fever, normal laboratory inflammatory parameters and slowly normalising chest radiography First act: (May 2000) II.

5. 4/9 Second act: 6 months later I. Unilateral submandibular lymph node enlargement, exscessive glossitis, stomatitis with subfebrility, yellowish- gray fur on the tonsils Moderately elevated laboratory inflammatory parameters (SR: 37 mm/h, CRP: 11 mg/l). She received oral cefuroxime. After temporary regression the lymph node enlargement became apparent again. The serologic blood tests showed a decreasing level of IgM for Mycoplasma pneumoniae, but proved a new infecton of Chlamydia pneumoniae. The other laboratory parameters did not change.

6. 5/9 Second act: 6 months later II. The oral cefuroxime was changed to oral dirithromycin which lead only to temporary regression and the dirithromycin was changed to azithromycin but again only transient regression could be reached. Aspiration biopsy of the lymph node showed non-specific inflammation with no sign of malignancy. PCR test of the aspirate was positive for Chlamydia pneumoniae and Mycobacteria (Mycobacterium avium?) She received oral clarithromycin for 6 weeks and her complaints diminished, the laboratory parameters normalised and her lymph nodes regrediated to normal size

7. 6/9 Interlude: the next 2 years Extensive furunculosis of the right gluteal area, several weeks of surgical treatment and oral amoxicillin/calvulanic acid (Staph. epidermidis) Furunculosis of the pubes and severe vulvitis (E. coli, Staph. epidermidis) Urinary tract infection (E. coli)

8. 7/9 Third act: the lymph nodes again… In the end of 2003 she developed an unilateral submandibular lymph node enlargement again and navel inflammation She had hepatomegaly The inflammatory parameters showed no elevation, but the liver enzimes and immune globuline concentrations were elevated She did not receive antibiotic treatment, the condition resolved in a short period of time

9. 8/9 Epilogue: IFNγ receptor deficiency? In the beginning of this year she developed multiplex paronychia of both hands The bacterial culture showed Staphilococcus aureus but the possibility of atipical mycobacterial infection was raised again Immunologic examinations are currently ongoing for IFNγ receptor deficiency

10. 9/9 Thank you for your attention