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

[Jyonouchi, Soma C]

NEMO deficiency (even without ectodermal dysplasia) should also be on the differential for this case.

With regard to Dyskeratosis Congenita, at our institution the infant onset cases often had features of immunodeficiency present prior to the development of mucocutaneous findings such  as leukoplakia and abnormal nails.

Soma

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Chinen, Javier
Sent: Friday, March 04, 2011 9:26 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] a question about a 20 mo old boy with FTT

YES.
And we have had a Zap70 def case with a similar  immunophenotyping (distribution and numbers).
In PID, as in other genetic conditions, I believe that spectrum of disease is more present than expected. Take into consideration, when the classical presentation does not fit, the number of cases reported in the literature per gene affected, and mechanisms of disease postulated.
Javier

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Sabiha Anis
Sent: Thursday, March 03, 2011 11:46 PM
To: PAGID
Subject: Re: [CIS-PAGID] a question about a 20 mo old boy with FTT

interesting case
Dear Dr Javier
Could we have normal or near normal T cells in Zap70def?

Regards

Sabiha Anis
Department of Molecular Diagnostics and Immunology
Sindh Institute of Urology and Transplantation
Karachi, Pakistan


> From: jxchinen at texaschildrens.org

> To: pagid at list.clinimmsoc.org

> Date: Thu, 3 Mar 2011 19:23:19 -0600

> Subject: Re: [CIS-PAGID] a question about a 20 mo old boy with FTT

>

> R/o ZAP70def

> ________________________________________

> From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of YaeJean Kim [yaejeankim at skku.edu]

> Sent: Thursday, March 03, 2011 6:19 PM

> To: pagid at list.clinimmsoc.org

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

>

> 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

>

>

>

>

>

>

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