X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
- O. Filipe-Santos, J. Bustamante, J. Casanova
- Biology, MedicineJournal of Experimental Medicine
- 10 July 2006
These two mutations in the NEMO LZ domain provide the first genetic etiology of XR-MSMD and demonstrate the importance of the T cell– and CD40L-triggered, CD40-, and NemO/NF-κB/c-Rel–mediated induction of IL-12 by monocyte-derived cells for protective immunity to mycobacteria in humans.
Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries
- Ludovic de Beaucoudrey, A. Samarina, J. Casanova
- Medicine, BiologyMedicine
- 1 November 2010
An international survey of 141 patients from 102 kindreds in 30 countries found that IL-12R&bgr;1 deficiency has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.
- M. Ouederni, O. Sanal, C. Rodríguez-Gallego
- Medicine, BiologyClinical Infectious Diseases
- 15 January 2014
Patients who are deficient in IL-12Rβ1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent, andCandidiasis may be the first clinical manifestation in these patients.
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity
- A. Aghamohammadi, N. Rezaei, H. Abolhassani
- MedicineJournal of Clinical Immunology
- 29 May 2021
This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region and identifies patients with mutations in specific genes associated with this phenotype with important implications for prevention, prognosis, treatment, and resource allocation.
Inherited IL-12p40 Deficiency
- C. Prando, A. Samarina, J. Casanova
- Medicine, BiologyMedicine
- 1 March 2013
IL-12p40 deficiency is more common than initially thought and should be considered worldwide in patients with MSMD and other intramacrophagic infectious diseases, salmonellosis in particular.
Contrasting frequencies of CCR5delta32 and CCR2-64I alleles in the Tunisian population.
- R. Barbouche, L. Hong, K. Dellagi, L. Kostrikis
- BiologyJournal of Acquired Immune Deficiency Syndromes
- 1 March 2001
The authors found that the CCR5-delta32 allele is significantly less frequent (Fisher exact test p value < 0.0001) among Tunisians and the genotype distribution is in equilibrium as predicted by the Hardy-Weinberg equation showing that no strong selection process is affecting the population.
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
- F. Conti, S. Lugo-Reyes, J. Bustamante
- Medicine, BiologyJournal of Allergy and Clinical Immunology
- 1 July 2016
Spontaneous IgM Autoantibody Production In Vitro by B Lymphocytes of Normal Human Neonates
- R. Barbouche, M. Forveille, A. Fischer, S. Avrameas, A. Durandy
- Biology, MedicineScandinavian Journal of Immunology
- 1 June 1992
In the absence of in vitro stimulation, human neonate B lymphocytes produce polyreactive antibodies of the IgM isotype against several autoantigens, similar to that ofpolyreactive autoantibody‐producing B cells in mice.
Enhanced Patient Serum Immunoreactivity to Recombinant Mycobacterium tuberculosis CFP32 Produced in the Yeast Pichia pastoris Compared to Escherichia coli and Its Potential for Serodiagnosis of…
- C. Benabdesselem, D. Fathallah, R. Barbouche
- Biology, MedicineJournal of Clinical Microbiology
- 1 September 2006
The trans-production of rCFP32 in P. pastoris significantly improved the serologic detection of CFP32-specific antibodies in patient sera, thereby offering a new, possibly better, modality for producing antigens of diagnostic potential for use in the development of immunoassays for both TB and other infectious diseases.
Use of Taguchi's methods as a basis to optimize hybridoma cell line growth and antibody production in a spinner flask
- H. Kallel, Hind Zaïri, D. Fathallah
- BiologyCytotechnology (Dordrecht)
- 1 May 2002
This study emphasizes the value of using Taguchi’s methods as a basis for optimization of mAb production from a hybridoma culture, in cost effective and significantly less labor intensive ways.
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