Background and Aims

Carriers of X-CGD have two populations of neutrophils resulting in a mosaic pattern in respiratory burst testing. There are increasing reports on photosensitivity, discoid lupus and autoimmunity in female carriers.

Methods

We present SLE and other autoimmune manifestations in 5 female-carriers in family of an index patient with X-CGD.

Results

Case-1:Patient’s mother, 32years-old, diagnosed with SLE for 11years. She had a history of deep venous thrombosis(DVT) at age of 11, and second DVT in her left leg during her pregnancy at 21years. She was tested for antiphosfolipid syndrome, Sjögren and SLE. She developed discoid lesions on face at age 29. For the last 3 years, her only symptom is a photosensitive rash on face. Anticardiolipin IgM/IgG are positive, ANA and anti-dsDNA are negative.

Case-2:Patient’s grandmother, 59years-old, has swelling and joint pain in fingers and toes for 3 years, diagnosed with rheumatoid arthritis and SLE.

Case-3:Patient’s aunt, 24years-old, diagnosed with SLE for 7years. She had multiple hospital admissions for joint pain, thrombocytopenia. She has recurring aphtous stomatitis and discoid rash. Laboratory testing showed she had 3+ANA, positive anti-histone antibodies, anti dsDNA and nucleosome.

Case-4:Patient’s aunt, 18years-old, diagnosed with SLE. She was first hospitalized at age 9 for recurrent arthritis. At age 17, she had pain, ecchymosis, swelling in leg with DVT. Recently, her renal biopsy revealed 2^nddegree lupus nephritis. ANA and anticardiolipin antibodies are positive.

Conclusions

Maternal female members of X-linkedCGD patients should be tested for carrier status and monitored for autoimmune diseases. Genetic counselling and consultation with rheumatology for autoimmune manifestations is required.