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Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protracted diarrhoea and respiratory tract recurrent infections. Genetic analysis revealed that 9 of the 11 patients had the same RFXANK founder mutation, a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). Immunological and genetic findings in our series may facilitate genetic counselling implementation for Algerian consanguineous families. Further studies need to be conducted to determine 752delG26 heterozygous mutation frequency in Algerian population.

HLA-DRB1*04 was associated with increased risk for RA and ACPA positivity, while HLA-DRB1*07 was associated with reduced risk for RA and RF synthesis in Algerian patients.

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Background: The aims of this study were to establish the clinical value of multi-parametric flow cytomentry (MFC) in multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS). Methods: We analyzed bone marrow aspirates from 112 MM and 17 MGUS patients by MFC, using 3 combinations of 9 color labeling: a, CD38 / CD138 / CD45 / CD56 / CD19 / CD27 / CD117 / CD20 / CD33; b, CD38 / CD138 / CD45 / cytoplasmic Kappa / cytoplasmic Lambda; and c, CD38 / CD138. MFC data were classified based on clinical features and prognosis factors. Results: Myeloma's patients compared to MGUS group had plasma cells (PCs) with abnormal immunophenotypic patterns, including high CD56 and CD20 expression and weak or negative CD45, CD19, and CD27 expression without significant median differences in expression of CD33 and CD117. Multiple myeloma patient with low expression of CD19, CD27 or CD45, overexpression of CD56 or with a high proportion of PCs at diagnosis demonstrated shorter overall survival times. Moreover, MM patients with combined abnormal expressions of 4 or 5 antigens demonstrated shorter survival times (P = 0.001). These high-risk MFC patients were associated with poor clinical outcomes, including ISS stage III and DS stage III, low hemoglobin levels, and elevated serum beta2-microglobilin (P = 0.01, P = 0.006, P = 0.01 and P = 0.008, respectively). Conclusions:The present study highlights the benefits of assessing abnormal antigen expression for clinical uses. These measures could facilitate proper diagnosis of disorders and improve risk stratification for a targeted early treatment regimen.