BACKGROUND: The most common autosomal form of Chronic Granulomatous Disease, p47-phox deficient CGD, generally features a GT (deltaGT) deletion in the GTGT sequence at the start of exon 2 on the NCF-1 gene. This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (psi s) and NCF-1. The GTGT: deltaGT ratio mirrors the NCF-I: NCF-1 psi ratio and is 2:4 in normal individuals.
OBJECTIVE: To determine the molecular basis of the Autosomal-CGD in a family with 2 children, a male and female, affected by the disease. The female patient suffered recurrent infection, retinitis pigmentosa and discoid lupus.
METHODS: Chemiluminescence (CL) was used to study the respiratory burst, while genetic analysis was done by RT-PCR, PCR, deltaGT and the 20bp gene scans.
RESULTS: The CL response of the patient was profoundly low. The patient's p47-phox band was absent in the RT-PCR for NADPH-oxidase component mRNAs. The deltaGT scan showed that the patient's GTGT: deltaGT ratio was 0:6, the parents' and the younger brother's was 1:5 and the younger sister's was 2:4. Examination of other NCF-1/ NCF-1 psi s differences showed that the father had a compound deltaGT allele ie. deltaGT-20bp, inherited by the patient, and that both parents had compound GTGT alleles with a single 30bp segment in intron 1.
CONCLUSIONS: The patient was a classic, homozygous deltaGT p47-phox deficient CGD with one allele harbouring a compound deltaGT-20bp gene. The deltaGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.
Key words: Chronic Granulomatous Disease, Primary Immunodeficiency, NCF-1, p47-phox, NADPH-oxidas
Systemic lupus erythematosus (SLE) is one of the commonest systemic autoimmune diseases that can present with variable clinical manifestations. Intravenous Immunoglobulin (IVIG) has been used as a salvage therapy for severe lupus with encouraging results though there is yet randomised trial to support the usage. This report highlights the efficacy and safety of high dose IVIG in SLE patients with multi-organ involvement particularly lupus nephritis. We also reviewed the literature on the usage of IVIG for lupus nephritis. However, more studies are needed to further clarify the optimal therapeutic dosage and regime for IVIG and to identify the group of patients who might benefit the most from this expensive therapy.
Joint involvement is common in systemic lupus erythematosus (SLE) patients, however, screening for joint specific autoantibodies in patients is not routinely performed. This may be due to the lack of known antigens and available tissue. The rat musculoskeletal tissue may be a suitable source of antigen to detect arthritic autoantibodies.
Method: We tested plasma of SLE patients, with arthritis (N=9) and without arthritis (N=7) as well as plasma from normal individuals (N=7) on fresh sectioned tissue from rat plantar hind paw using indirect immunofluorescence method.
Results: Binding of autoantibodies to striation in skeletal muscle cells in the tissue was clearly demonstrable in all samples from SLE with arthritis but not on slides incubated with plasma from normal or SLE without arthritis.
Conclusion: Thus, rat plantar tissue may be suitable for detecting autoantibodies from SLE patients that may be involved in the pathogenesis of lupus arthritis.
Autoimmune thyroiditis in the course of other autoimmune diseases such as systemic lupus erythematosus (SLE) is common because these disorders are attributed to the production of autoantibodies against various autoantigens. Beyond this association, autoimmune thyroiditis can occur before, during or after the development of SLE. In this report, we describe a female who presented with facial puffiness, lethargy and progressive abdominal distension. She was diagnosed with autoimmune thyroiditis followed by the diagnosis of SLE complicated by a massive ascites, a rare form of lupus peritonitis, which is sterile ascites that results from severe serositis. Her presentation was complex and posed a diagnostic challenge and dilemma to the physicians involved in her care.
There is presently no line of distinction between oral lichen planus and other oral lichenoid lesions. The aim of this study is to determine using histomorphometry, the differences between these lesions. Paraffin sections from 7 normal buccal epithelium, 19 oral lichen planus (LP), 14 oral lichenoid lesions (LL) and 7 discoid lupus erythematosus-like lesions (DLE-ll) were selected. The nuclear volume (V(N)) and cellular-volume (V(CELL)) of the epithelium were assessed using an image analyser. The V(N) and V(CELL), derived for both basal and spinal strata in LP and DLE-ll were 2.3 times more than that of normal tissues. There was a significant difference between LP and LL (P < 0.005) and between LL and DLE-ll (P < 0.001), but not between LP and DLE-ll. In conclusion, there appears to be a difference between LP, LL and DLE-ll and V(N) and V(CELL) may serve as potential discriminators between these groups of lesions.
Systemic lupus erythematosus (SLE) is a chronic, multisystem, autoimmune disease that can affect any part of the human body including the eyes. Common blinding ocular manifestations include central retinal artery occlusion (CRAO), central retinal vein occlusion (CRVO), severe vaso-occlusive retinopathy, and optic nerve involvement. Antiphospholipid syndrome (APS) in lupus is usually associated with large vessel occlusions and needs prompt treatment with anticoagulant. We are reporting two cases of APS in SLE patients that presented with CRVO (case 1) and vaso-occlusive lupus retinopathy (case 2). Both cases were positive for antiphospholipid antibody (APA) and were treated with immunosuppression, anticoagulant, and laser treatment. Thus, screening for APA is vital in SLE patients with lupus retinopathy, as prompt treatment with anticoagulants is important to prevent further vascular thrombosis, which worsens the visual prognosis.
Study site: Ophthalmology clinic, Hospital Raja Permaisuri Bainun, Ipoh, Perak, Malaysia