We read the recent article on approach to primary immunodeficiency disorders (PID) [1] with interest. These disorders are under-diagnosed in the developing world. On reviewing published Indian data on PID we came across only 4 large series reporting a total of 386 cases [3-5]. Most common PID’s reported are disorders of immune dysregulation followed by phagocytic disorders and predominant antibody deficiencies [4,5]. High mortality rates of upto 51% have been reported [5].

We report here a series of 11 children (8 males) registered in our PID clinic from January to July 2013. Eight were males and three females. Mean age was 5.2 years (4 months-12 yrs.). Two had X-linked agammaglobuinemia. Both are on replacement intravenous immunoglobulin (IVIG) therapy and doing well. Third, a 12-year-old male presented to us with severe aplastic anemia (SAA) with common variable immunodeficiency. He underwent matched sibling donor bone marrow transplant (BMT) for SAA. At eighty days post-transplant, he has normal blood counts and immunoglobulin levels. Fourth child had pure red cell aplasia with isolated IgM deficiency. He responded well to prednisolone. Fifth child had congenital neutropenia and negative for ELANE mutation for congenital neutropenia. His neutrophils increased only after high dose granulocyte colony stimulating factor (60 ug/kg/day). Sixth patient had hemophagocytic lympho histiocytosis and was managed as per HLH 2004 protocol. Two infants were diagnosed as cases of autoimmune lymphoproliferative syndrome and are doing well on prednisolone and mycophenolate. Two were diagnosed as case of Heme-oxygenase-1 deficiency with auto-inflammatory syndrome. One boy was diagnosed with X-linked severe combined immunodeficiency and underwent matched unrelated donor BMT abroad without conditioning. Although his T-cells and NK-cells recovered but he still has low immunoglobulin levels.

Our small series shows that improvement in survival is possible; although, pan-India improvement would require increased awareness among pediatricians, establishing specific centers offering genetic diagnosis and definitive therapy like BMT.

1. Madkaikar M, Mishra A, Ghosh K. Diagnostic approach to primary immunodeficiency disorders. Indian Pediatrics. 2013; 50: 579-586.

2. Verma S, Sharma PK, Sivanandan S, Rana N, Saini S, Lodha R, et al. Spectrum of primary immune deficiency at a tertiary care hospital. Indian J Pediatr. 2008; 75:143-148.

3. Gupta S, Madkaikar M, Singh S, Sehgal S. Primary immunodeficiencies in India: a perspective. Ann N YAcad Sci. 2012; 1250:73-79.

4. Madkaikar M, Mishra A, Desai M, Gupta M, Mhatre S, Ghosh K. Comprehensive report of primary immunodeficiency disorders from a tertiary care center in India. J Clin Immunol. 2013; 33(3):507-512.