[CIS PIDD] [cis-pidd] obesity, fever, elevated B cells

[CIS-PIDD]

Hello all,



Wondering if you have any thoughts on a couple of patients I have seen this past year. Both are obese pediatric patients with chronic fever and elevated B cells.



Patient 1 is a now 17 year old male. BMI from high 30s to 48kg/m^2 most recently. He complains of chronic fever without clear pattern and daily vomiting. Previously, he had abdominal pain and a lower endoscopy that showed mast cells in the lamina propria. Tryptase was 15.4 mcg/L, bone marrow was unremarkable without cKIT mutation. Spleen was removed  (not my recommendation) and was normal. Since I started seeing him, he has had chronically elevated CRP 3 to 6 mg/dl, CD19 count around 1000/ul (500 is upper limit), and borderline elevated CD3+4+ count. Cytokine panel (IL2, sCD25, IL-12, ifng, IL4, IL5, IL10, IL13, IL1b, IL6, IL8, TNFa, IL17) all normal. IL18 level was not elevated. Sequencing 25 fever genes panels found no suspicious variant. 1 week trial of anakinra reduced the CRP to normal but did not improve symptoms. No rash or joint symptoms. No other concerning symptoms.



Patient 2 is a 13 yo male. BMI is 44. Chronic fever onset around grade school age. Temps up to 102F once monthly but no clear pattern. Elevated temps otherwise throughout the month but lower. CRP with minor elevation to 0.5 to 1.5 mg/dl. Lymphocyte phenotype was normal except for B cells elevated to 1000/ul.  Cytokine panel (IL2, sCD25, IL-12, ifng, IL4, IL5, IL10, IL13, IL1b, IL6, IL8, TNFa, IL17) all normal. Sequencing 25 fever genes panels found only a heterozygous MVK variant, V377I. IgD level in the blood was normal. We are awaiting urine organic acids during a fever episode, but I am doubtful that MVK deficiency is the cause. He lacks associated symptoms other than malaise with the fevers.



Has anybody else seen similar patients? Is there a connection between the obesity, fever, and elevated B cell numbers that I am missing?



Thanks,

Jordan

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