Recurrent Transfusions and Severe Infections

Hatipoglu immunodeficiency syndrome (HATIS) is an autosomal recessive immunologic disorder, characterized by cytopenias, recurrent infections, and failure to thrive associated with biallelic mutation in DPP9 gene. We report 8-month-old pair of twins born to a nonconsanguineous marriage with similar presentation showing severe anemia and recurrent sino-pulmonary infections requiring multiple hospitalizations and blood transfusions with investigations suggestive of macrocytic anemia unresponsive to B12 supplementation. Immunodeficiency workup showed positive Dihydrorhodamine test suggestive of chronic granulomatous disease and whole exome sequencing displayed DPP9 mutation in both the twins.