Jalel Chemli

TL;DR: 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.

TL;DR: In this article, the authors report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, India, and Iran).

TL;DR: Mycobacterial disease is relatively common in patients with CGD living in countries in which tuberculosis is endemic, BCG vaccine is mandatory, or both, and adverse reactions to BCG and severe forms of tuberculosis should lead to a suspicion of CGD.

TL;DR: Five patients from 4 unrelated Tunisian families who presented with disseminated neonatal infection by Mycobacterium bovis bacille Calmette-Guérin strain were investigated and all patients had complete lack of expression of the affected polypeptide and a profound deficiency of in vitro interferon-gamma production.

TL;DR: The genetic and mutational heterogeneity of the AR recessive form of CGD in Tunisia is revealed, with two novel mutations in NCF2 and CYBA in addition to the recurrent mutation, ΔGT, inNCF1 and a splice site mutation previously reported in a North African patient.