[CIS-PAGID] a question about a 20 mo old boy with FTT

[dmvascon at usp.br]

Hi YaeJean, good evening

Another very interesting case from your casuistry.

The clinical features look like a NK deficiency, which is very rare  
but must be reminded.

Is the family consanguineous? It is interesting to look for NK as well  
as NKT cells, and if possible to test for NK cell cytotoxicity (by a  
51Cr release assay). It would be interesting to look for the few (if  
any) NK cells and their expression of CD56 (dim or high), which  
possess different functions.Gamma common and Jak3 deficiencies present  
NK cell deficiencies along with Tcell decreases as well.

Some years ago I saw a poster at an ESID meeting of a patient with  
absent expression of the alpha chain of the CD15 receptor (which  
shares the beta and gamma chain with IL2 receptor), but they didn't  
identify the mutation and I've never seen any other citation of this  
patient.

I would try to test for STAT-5 phosphorylation after stimulation by  
IL-2 and IL-15.

On the clinical side I would treat aggressively for CMV (and other  
possible herpesvirus) and think about the possibility of a virus  
induced BOOP instead of several bacterial pneumonitis.

Good luck for your patient.

Best regards,

Dewton

Dewton de Moraes-Vasconcelos
University of São Paulo School of Medicine

Citando YaeJean Kim <yaejeankim at skku.edu>:


> Dear all,

>

> I have another 20 mo old boy to ask your opinions. Sorry but this is long.

>

> 20 mo old boy presented with chronic sino-pulmonary infections.

> already has 4 hospitalization d/t pneumonia to other hospital in 2010

>

> This time, first presented to other hospital d/t influenza and pneumococcal

> bacteremia for which he received ICU care (IVIG was given)

> He continued to have desaturation and pulmonary sx -> transferred to our

> PICU.

>

> FHX: his sister died at age 3 y d/t aspiration pneumonia per mom. She

> had develpmental delay, FTT and serious infection [r/o pulmonary TB (AFB

> trace one time-> medication done, candida septisemia (nosocomial?)], seizure

> disorder. [immune w/o of sister showed normal DHR, lympho subset shoed

> decreased NK (less than 1%), C4 (5.2)] no further w/o.

>

> Back to this patient:

> His condition has been up and down (pulmonary sx aggravated with eating, we

> were concerned about gastroesophageal reflux and plan to pH monitoring but

> missed the chance to do the study..esophagogram was done to check for H type

> TE fistula which was negative.

>

> His lab on arrival at our hospital:

> CBC (2/19)  4.77-42.1-142K (diff count: S75, L21, M3.6), NAC 3.5, ALC 1.0

>

> DHR negative, IgG 787 mg/dL, IgA 73 mg/dL, IgM 452 mg/dL, IgE 0 U/mL,  CH50

> 44 U/mL

>  -> before we got the lympho subset..based on incrased IgM, we did CD40/CDL

> flow which was OK.

>

> Lympho subet

> CD 19:  0.18 x10^9/L [median 0.8 (nl range 0.2-2.1)]

> CD3:     0.74             [2.3 (nl 0.9-4.5)]

> CD4      0.67             [1.3 nl 0.5-2.4)]

> CD8      0.69             [0.8 (nl 0.3-1.6)]

> NK        0                 [0.4 (nl 0.1-1.0)]

>

> CD19   19%   [24 (14-44)]

> CD3     77%   [64 (43-760)]

> CD4     70%   [37 (23-48)]

> CD8     9%     [24 (14-33)]

> NK       0%     [10  (4-23)]

>

> He has now CMV antigenemia over 100/slide for which he is on ganciclovir, I

> started bactrim (no PCP identified though), and he also has on amp/sulbactam

> (sinusitis and pneumonia, d/t prabable aspiration..)

> His chest CT (1/26 outside hospital): multifocal consolidation and

> peribronchild infilraion wih multiple mediastinal LN enlargement (this was

> after influenza, pneumococcal bacteremia)

> a f/u chest CT (2/19 on arrival to our hospital): internal

> improvement...with periportal edema..

>

> NOW, his condition really deteriorated after (waxing and waning over the 10

> d), He is in PICU again. lympho proliferation is pending..other gene studies

> pending..

> with ganciclovir, he has significant cytopenia..1.35-30.8-31K: we are giving

> GCSF..

> He has thyroid function abnormality, persistent hyponatremia...

>

> I thougth first he might have hyper IgM..then I thought SCID. But the

> initial lympho subset could have been just low d/t recent significnat

> infection and the percent does not really match..He has 0% of NK cell (his

> sister had also low countss)..

> His IgG went down from 787 to 226 after about 1 days...I gave further IVIG.

>

> At this point, I'd like to ask your opinion about which direction I should

> go to narrow down the ddx.

> Thanks a lot.

>

> YaeJean

>