Immunodeficiency 70 (IMD 70)

Abstract

Background: Immunodeficiency 70 is a rare disease and there are only very few cases in the literature. Case History: Young boy in his early 20’s from Indian subcontinent presented with recurrent episodes of fever, oral ulcers, loss of weight for past 3 years. Four episodes (july 2019, april 2020, APRIL 2021, Jan 2022) of fever, each high grade associated with chills, rigor, nausea, myalgia, throat pain, holo-cranial headache, painful oral ulcers over the tongue and painless over lips. Initial episode of fever was associated with leucopenia (3200) and thrombocytopenia (122000), acute kidney injury (creatinie-3.0) and pyelonephritis, transaminitis. He received 2 weeks of parenteral antibiotics and improved. Subsequent episodes of fever is not associated with any localizing symptoms or signs. No history Suggestive of connective tissue disease. Family history was non contributory. Physical examination: He was febrile (101 degree F), pulse rate 100/minute, respiratory rate 18/minute, tongue ulceration in lateral border, no lymphadenopathy, no organomegaly, normal sytemic examination. Evaluation: The patient was evaluated for chronic infections, hematalogical malignancy, Behcet’s disease, auto inflammatory syndromes like Haplo insufficiency of A20. His complete blood count, electrolytes, renal function test, liver function test urine microscopy, blood culture were normal. CRP was elevated (58 mg/l). Tzanck smear from buccal mucosa was negative. CT thorax and abdomen showed no significant lymphadenopathy, organomegaly, evidence of infections or malignancy. In view of oral ulcers & fever Behcet’s disease was considered and HLA b51 was sent and came negative. Exome genome sequencing was done to diagnose immunodeficiency or autoinflammatory syndromes which came positive for immunodeficiency 70. Treatment: He was treated with colchicine and fever subsided and leucopenia improved Discussion: Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections like pneumonia, boils, sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia, combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has material basis in heterozygous mutation in IVNS1ABP on chromosome 1q25.3.