XDR TB in a case of IL12Rβ1 deficiency: a case report of Mendelian Susceptibility to Mycobacterial Disease from India.
Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a relatively new term that describes a spectrum of inherited defects in the IL-12/23 and IFN- γ pathways that result in a selective predisposition to disease caused by poorly pathogenic mycobacteria. In contrast to previous reports of patients infected with environmental mycobacteria and BCG, this manuscript elucidates the clinical course and diagnosis of MSMD in a child harboring extensively drug resistant (XDR) Mycobacterium tuberculosis.
Department of Pediatrics, Nanavati Hospital, Mumbai, India. deandoc2000@hotmail.com
Rashid H
RH
Merchant
Javed
J
Ahmed
Noor
N
Ahmad
D000305:Adrenal Cortex Hormones / Q000008:administration & dosage; D000995:Antitubercular Agents / Q000008:administration & dosage; D001500:BCG Vaccine / Q000008:administration & dosage; D002675:Child, Preschool; D003131:Combined Modality Therapy; D003906:Developing Countries; D004359:Drug Therapy, Combination; D054908:Extensively Drug-Resistant Tuberculosis / Q000175:diagnosis* / Q000235:genetics*; D005335:Fever of Unknown Origin / Q000209:etiology / Q000276:immunology; D006801:Humans; D034062:Insomnia, Fatal Familial; D007371:Interferon-gamma / Q000097:blood; D008214:Lymphocytes / Q000276:immunology; D008297:Male; D009165:Mycobacterium Infections, Nontuberculous / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics* / Q000276:immunology; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000235:genetics*; D014390:Tuberculosis, Meningeal / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics* / Q000276:immunology; D017287:Ventriculoperitoneal Shunt
D000305:Adrenal Cortex Hormones; D000995:Antitubercular Agents; D001500:BCG Vaccine; C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12; D007371:Interferon-gamma