Although epidemiological evidence suggests a human genetic basis of pulmonary tuberculosis (PTB) susceptibility, the identification of specific genes and alleles influencing PTB risk has proven to be difficult. Previous genome-wide association (GWA) studies have identified only three novel loci with modest effect sizes in sub-Saharan African and Russian populations. We performed a GWA study of 550,352 autosomal SNPs in a family-based discovery Moroccan sample (on the full population and on the subset with PTB diagnosis at <25 years), which identified 143 SNPs with p < 1 × 10−4. The replication study in an independent case/control sample identified four SNPs displaying a p < 0.01 implicating the same risk allele. In the combined sample including 556 PTB subjects and 650 controls these four SNPs showed suggestive association (2 × 10−6 < p < 4 × 10−5): rs358793 and rs17590261 were intergenic, while rs6786408 and rs916943 were located in introns of FOXP1 and AGMO, respectively. Both genes are involved in the function of macrophages, which are the site of latency and reactivation of Mycobacterium tuberculosis. The most significant finding (p = 2 × 10−6) was obtained for the AGMO SNP in an early (<25 years) age-at-onset subset, confirming the importance of considering age-at-onset to decipher the genetic basis of PTB. Although only suggestive, these findings highlight several avenues for future research in the human genetics of PTB.
Multifocal tuberculosis (TB) is rare. It occurs especially in immunocompromised patients. Association with skin involvement is rarer, and few cases are reported in the literature. The present study reports 7 cases of multifocal TB with cutaneous localization in immunocompetent patients. Cutaneous forms of TB included in this series are: gummas, scrofuloderma, vasculitis TB and lupus TB. The patients had at least two extra skin locations, namely: osteoarticular, lung, pleural, scrotal, muscular, digestive, laryngeal, nodal and splenic locations. These patients had no context of immunosuppression which is uncommon, but should be kept in mind, especially in endemic countries.
Cutaneous leukocytoclastic vasculitis (CLV) is an inflammatory vascular disorder rarely reported to be associated with tuberculosis. The following report describes the case of a young man with multifocal tuberculosis revealed by CLV. Diagnosis was confirmed by the presence of tuberculoid granuloma with caseous necrosis on pleural and perianal biopsy, and a rapid improvement in anti-tuberculous quadritherapy. Although rarely seen, Mycobacterium tuberculosis should be considered as a potential cause of CLV.
Multiple auto-immune syndrome is defined by the coexistence of at least three different autoimmune diseases. Immune genetic predisposition and abnormalities of humeral and cell-mediated immunity seems to be implicated in their genesis.In this observation, we describe a combination of three autoimmune diseases in the same patient namely vitiligo evolving since childhood, autoimmune dermo epidermal bullous dermatosis and autoimmune thrombocytopenia. The discovery of such associations may limit the therapeutic arsenal. And temporal sequence indicates that long-term surveillance of these patients is necessary to watch the occurrence of another autoimmune disease.According to the clinical context and the results of immune histology we retained in our patient the combination of three autoimmune diseases: vitiligo, autoimmune thrombocytopenia with autoimmune bullous derma epidermal dermatitis most probably cicatricle pemphigoid. Epidermolysis bullosa acquisita that looks like cicatricle pemphigoid cannot be ruled out given the lack of examination by immune-microscopy.The patient was initially put on oral corticosteroids at a dose of 1mg / kg / day until normalization of platelet levels. Then treatment with daps one at a dose of 2 mg / kg / day associated with mycofenolate mofetil at a rate of 2g / day was initiated with a clinical and laboratory monitoring. The evolution was marked by the stabilization of the disease and a slight improvement in ocular involvement. DisscussionWe report a unique case characterized by the association of vitiligo, an autoimmune thrombocytopenia and autoimmune dermo epidermal bullous dermatosis in a male patient. It is still uncommon IntroductionMultiple autoimmune syndrome is defined by the coexistence of at least three different autoimmune diseases which can occur simultaneously or over several years of evolution. We report an exceptional association of vitiligo, autoimmune thrombocytopenia and autoimmune dermoepidermal bullous dermatosis. ObservationA young patient of 35 years presented since the age of 14 achromic non-painful or pruritic lesions which gradually extended to the level of the body. 4 years ago he developed intermittent oral and nasal erosions associated with red eyes and a decrease of visual acuity impeding his daily and professional activities. He also reported episodic appearance of some liquidiennes skin lesions without signs of infection or systemic disease.Ocular examination revealed bilateral red eyes with Symblepharon, and corneal dystrophy (Figure 1). Cutaneous examination revealed at the left leg the presence of tense bullae with clear contents based on healthy skin, associated with hemorrhagic erosions (Figure 2). The Nikolsky's sign was negative. There were also extensive achromic patches (Figure 3). Laboratory test showed thrombocytopenia at 32000 / mm3. We completed the investigation by sternal puncture which showed a hypercellular marrow with megakaryocytic hyperplasia in support of a peripheral autoimmune origin. Thyroid and anti-nuclear antibody wer...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2025 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.