Recurrent tuberculosis
Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056

Clinical Problem :
A 2 years 3 months old boy presented with recurrent tuberculosis since 1 month of age. He was born at term and had meconium aspiration and required neonatal intensive care stay for 6 days. At 1 month of age, he had fever and abdominal distension. Ultrasound abdomen showed multiple splenic, hepatic and omental abscesses that showed acid fast bacilli {AFB} on pus aspiration. He was vaccinated for BCG and neither parents had TB. He was treated with antituberculous therapy {ATT}. At 6 months of age, he developed left axillary lymphadenopathy and lymph node biopsy again showed AFB on smear. He received ATT for 1 year. At 13 months of age {after 1 week of completion of ATT}, he developed swelling on left tibia and X-Ray was suggestive of osteomyelitis. Pus was aspirated that showed acid fast bacilli but TB culture was negative. He was treated with ATT and Ofloxacin again for 1 year. After 3 months of completion of second course of ATT, he again developed left axillary lymphadenopathy and fine needle aspiration has been done and sent for TB Bactec culture. In view of recurrent tuberculosis, an immunodeficiency is considered and serum immunoglobulins are normal, CD3, CD4 and CD8 are normal and HIV ELISA is negative.

Question :
What is the likely cause of recurrent tuberculosis in this child_?

Expert Opinion :
Mendelian susceptibility to mycobacterial disease {MSMD}. It is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis, Bacille Calmette Guérin {BCG} vaccines and non-tuberculous mycobacteria {NTM}. {1} Serious and disseminated infections with BCG and NTM are observed and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. These patients are also prone to systemic non-typhoidal salmonellosis. {2} It occurs due to disorders of the interleukin {IL}-12–interferon {IFN} gamma circuit. Diagnosis is made by laboratory analysis. IFN-gamma, IL-12p40 and IL-12p70 levels can be measured by ELISA, after whole blood activation by BCG, BCGplusIL-12 and BCGplusIFN-gamma. There are 6 genetic mutations identified till date.
BCG vaccination should be avoided in these patients. But this seemingly is a difficult task in keeping with the fact that most children in a country like India that is endemic for tuberculosis are vaccinated soon after birth. Anti-mycobacterial therapy may have to be continued for extended periods with supplementary measures such as drainage of pus, attention to nutrition and growth are important. IFN gamma can also be tried in these patients. Antibiotics should not be discontinued and bone marrow transplantation may be considered in children with complete IFN?R1 or IFN?R2 deficiency, in whom IFN? treatment is ineffective and mycobacterial infections overwhelming.

1} Mendelian susceptibility to mycobacterial diseases. Available at website:, consor, cgi-bin, OC_Exp.php_?Lng=ENandExpert=748. Accessed on 22 January 2015.
2} Bustamante J, Picard C, Dupuis SB, Abel L, Casanova JL. Genetic lessons learnt from X-web addressed Mendelian susceptibility to mycobacterial diseases, Ann NY Acad sci.Dec2011:1246:92-101.

Correct Answers :  yes 7%
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