[CIS PIDD] [cis-pidd] Fw: HLH in SCid with CMV?

[CIS-PIDD]

Hello all - my apologies if this is being sent a second time, but I am not sure if the first email went through.


I would greatly appreciate your expert management advice on a 3 month old boy with suspected SCID and disseminated CMV infection, with some HLH-like features.


My main question is regarding treatment for immune activation versus simply trying to treat infection (and of course any other suggestions for managing the severe infection). On a secondary note- what is the role of holding breastfeeding  in the context of established CMV infection?


Here is the story:

3 month old boy with some HLH features but not meeting criteria: Ferritin >3500, pancytopenia with hemoglobin 70 g/L, platelets 20 x 10^9/L, WBC 2-5 x 10^9/L, hypofibrinogenemia, hypertriglyceridemia, massive hepatomegaly, normocellular bone marrow in keeping with inflammatory/reactive process without hemophagocytosis; no fever and no splenomegaly at any point, normal soluble IL2R levels). Not enough T cells or NK for Cd107a, Perforin/granzyme expression. He has prominent neurologic symptoms (seizures, irritability) with increased protein and cell count in CSF (evenly lymphocytes, neutrophils and monos/macro), but no infections identified there (CMV PCR pending). He has rising liver enzymes (AST, GGT both in hundreds). MRI/CT brain normal. Worsening bilateral infiltrates and ground glass opacities on CXR and CT chest, small effusion. He is on low flow oxygen.


His immune workup showed almost no T or NK cells (36 cells/mcl T cells) on two occasions, but normal B cells in peripheral blood (similar distribution in the marrow). He has low IgG 1.5 g/L, absent IgA, and normal IgM (0.27 g/L). No thymus seen on CT/CXR (acknowledging he is sick/stressed), no secondary lymphoid tissue on exam. Diarrhea since receiving rotavirus 1 month ago (however no rotavirus in stool- repeat pending).


Pending investigations: SAP, XIAP, CD132 by flow; mitogen proliferations, TRECs (retrospectively since we don’t screen in this province yet), CD45Ra/Ro/recent thymic emigrants, bronchoscopy infectious results, Genetic panel for SCID.


Current management includes:

-IVIG replacement recently given

-Septra PJP treatment dose

-Gancyclovir

-Ceftriaxone

Thank you so much!


Sincerely,

Tamar Rubin


Tamar Rubin, MD, FRCPC

Pediatric Clinical Immunology and Allergy

University of Manitoba

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