exon-2 (c.410C>T) leading to CTLA-4 haplo-insufficiency suggestive of ALPS-Type-V. Child was started on steroids 2 mg/kg/d and Sirolimus (titrated to levels 8-12 ng/L). He is doing well with regression of lymphadenopathy/splenomegaly and normal counts.CTLA-4 haploinsufficiency with Autoimmune Infiltration (CHAI), due to haplo-insufficiency of CTLA-4 inhibitory T-cell receptor leads to severe immune dysregulation and lymphocytic infiltration of organs including but not limited to lungs, brain and gastro-intestinal system [2]. CHAI, common in older children and young adults, has predisposition to develop lymphoma due to hyperproliferation of lymphocytes [3]. Steroids, Sirolimus and Mycophenolate mofetil are main-stay of therapy; Abatacept, competing with CD-28 inhibiting co-stimulatory signalling and T-cell activation is effective. Allogeneic stem cell transplantation is rarely necessary [4].High index of suspicion and judicious use of clinical exome sequencing help to characterize these rare disorders better.

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Von Willebrand disease (VWD) Type 3 is an uncommon bleeding disorder, resulting from the near absence of Von Willebrand factor (VWF) and extremely low factor-VIII levels. It is a close differential diagnosis of hemophilia. A wide heterogeneity of VWD mutations are reported in the literature. We report a 16-year-old girl with hemarthrosis, finally diagnosed with Type 3 VWD. Clinical exome sequencing confirmed the diagnosis, revealing a homozygous mutation c.4387G>T (p. Glu1463Ter) in exon 28 of the VWF gene, a unique mutation not yet reported in the literature.