21q22.11q22.12 deletion syndrome with secondary hemophagocytic lymphohistiocytosis

Sunil Taneja, Alexandra Bansal, Pratishtha Goyal, Iltefat Khan, Rajeev Shekhar, Iftikhar Hussain Khan


Haemophagocyticy lymyphohistiocytosis in the new-born is uncommon. Incidence is reported between 1 in 50,000 to 1,50,000 admissions. Usually it is primary or familial HLH in the first year of life. Secondary causes are due to viral, bacterial and fungal infections. A dysmorphic small for gestational age male neonate presented with sepsis and neonatal cholestasis. He also had associated HLH. Exom sequencing showed a 21q22.11q22.12 deletion. This has not known to have any association with familial HLH. He was managed with IVIG and steroids. The neonate made a recovery but succumbed later to an intercurrent illness.


21q22.11q22.12 deletion syndrome, Neonate, HLH

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Chang TY, Jaffray J, Woda B, Newburger PE, Usmani GN. Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia. Pediatr Blood Cancer. 2011;56(5):856-8.

Filipovich A, Clain K, Grom A. Histiocytic disorders: recent insights into pathophysiology and practical guidelines. Biol Blood Marrow Transplant. 2010;16(1):82-9.

Zarrini P, Mosayebi Z, Ramyar A, Dalili H. Hemophagocytic Lymphohistiocytosis in a Neonate: Case Report. Acta Med Iran. 2017;55(1):82-4.

Jordan MB, Allen CE, Weitzman S, Filipovich AH, Clain KL. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011;118(15):4041-52.

Lee SM, Sumegi J, Villanueva J, Tabata Y, Zhang K, Chakraborty R, et al. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr. 2006;149(1):134-7.

Janka GE. Hemophagocytic lymphohistiocytosis. Hematology. 2005;10(1):104-7.

Suzuki N, Morimoto A, Ohga S, Kudo K, Ishida Y, Ishii E, et al. Characteristics of hemophagocytic lymphohistiocytosis in neonates: a nationwide survey in Japan. J Pediatr. 2009;155(2):235-8.

Janka GE, Schneider EM. Modern management of children with haemophagocytic lymphohistiocytosis. Br J Haematol. 2004;124(1):4-14.

Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-31.

Bay A, Calka O, Akdeniz N, Oner AF, Kirimi E. Newborn infant with hemophagocytic lymphohistiocytosis and generalized skin eruptions. J Dermatol. 2006;33(9):628-31.

Kliegman RM, Stanton BF. Nelson textbook of pediatrics. 1st ed. India: Elsiver; 2016. 2488-2489.

Katzaki E, Morin G, Pollazzon M, Papa FT, Buoni S, Hayek J, et al. Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. Am J Med Genet A. 2010;152(7):1711-7.