[CIS PIDD] 14y.o autoimmune haemolytic anemia and profound CD4 lymphopenia

[Nacho Gonzalez]

Dear all,

Uric acid is 6,3mg/dL (N  2,2-7).
DNT  2% (Normal values in our lab 0 - 2,5% ) (sFasL & IL10 pending),
neither splenomegaly nor lymphadenopathies.

Regards,

Nacho Gonzalez & Luis Allende
H 12 octubre. Madrid. Spain

2012/8/15 Infante, Anthony J <INFANTEA at uthscsa.edu>


>  IgG is on the high end and there is a gap between total of CD4 plus CD8

> vs. CD3, suggesting increased DNT. Although lymphopenia doesn’t really fit,

> could this be ALPS?****

>

> ** **

>

> Tony Infante****

>

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Nacho Gonzalez

> *Sent:* Wednesday, August 15, 2012 1:36 PM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [CIS PIDD] 14y.o autoimmune haemolytic anemia and profound

> CD4 lymphopenia****

>

> ** **

>

> Sure,

> Thanks,

> Nacho****

>

> El 15/08/2012 20:25, "Kumar, Ashish" <Ashish.Kumar at cchmc.org> escribió:***

> *

>

> Nacho,****

>

> Please update us with whatever you find in this patient. I have a pair of

> patients identical to yours – 2 brothers, both of whom developed autoimmune

> hemolytic anemia at age 14. The older brother had a second episode at age

> 18, and no other health problems at all. They both have significant

> lymphopenia with profiles nearly identical to what you listed. They remain

> without a diagnosis but are currently completely healthy.****

>

> Ashish****

>

>  ****

>

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Nacho Gonzalez

> *Sent:* Wednesday, August 15, 2012 7:08 AM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* [CIS PIDD] 14y.o autoimmune haemolytic anemia and profound CD4

> lymphopenia****

>

>  ****

>

> Dear all,****

>

>

> We would like to hear your inputs concerning a 14 y.o male with autoimmune

> haemolytic anemia and profound CD4 lymphopenia.

> WBC: Leuc 3.70 x1000/μl; Neutr 2.20 x1000/μl;* Lymph 0.745 x1000/μ*l;

> Mono 0.5 x 1000/μl; Eos 0.1 x 1000/μl. In the past (WBC with normal lymph

> from 2005 to 2011)

>

> The first episode required ICU admission due to Hb 3.5 g/dL. Reticulocytes

> and bilirubin are increasing slowly (Retic Abs 240.8 x1000/μl %6.9 Bili

> 2.5, two weeks ago).

> The only remarkable disease in the past was congenital hepatitis B

> infection (AgHBs+, Anti-HBc: IgG, AntiHBe+ Viral load 252 UI/ml, log2.4)

>

> *LYMPH SUBSETS* (tested three times, with low-dose steroids and without

> steroids the subpopulations are similar)****

>

> *T-lymph*****

>

> %CD3+ 56%, Abs 444 cels/μl,****

>

> %CD3+TcRab+ 42%, Abs 327 cels/μl****

>

> %CD3+TcRgd+12%, Abs 94 cels/μl****

>

> *%CD4+ 13% , Abs 102 cels/μl*,

> %CD8+ 26 % Abs 205 cels/μl,

> CD4/CD8 0.5****

>

>  ****

>

> *T CD4+Naïve-Memory*****

>

> % T CD4+Naive (*CCR7+CD45RA+) 1.4 %* [ 32.0 - 48.0 ]****

>

> % T CD4+Memory (CCR7+/-CD45RA- 97.6 % [ 40.0 - 57.0 ] ****

>

> *T CD8+Naïve-Memory-Effector*****

>

> % *T CD8+Naïve (CCR7+CD45RA+) 12.4 %* [ 25.0 - 45.0 ]

> % T CD8+Memory (CCR7+/-CD45RA+) 45,4 % [ 20.0 - 45.0 ]

> % T CD8+Effector (CCR7-CD45RA+) 42.3 % [ 17.0 - 39.0 ]****

>

> *Thymic Output

> % Tcells CD4+CD45RA+CD31+ 3 %* [ 44 - 60 ]****

>

> *Activated T cells

> % T HLA-DR+ 20 %* [ 0 - 10 ] Abs T HLA-DR+ 145 cels/μl [ 0 - 250 ]****

>

> *TcR Vbeta repertoire*****

>

> *Skewed* T CD4 and CD8 TcRVb *repertoire *****

>

> *B-lymph*****

>

> %CD19+ 41 % [ 5 - 18 ] Abs 305 cels/μl [ 100 - 500 ]

> % B CD27+ 20.0 % [ 7.1 - 19.1 ]

> % B Naïve (IgD+CD27-) 73.0 % [ 75.1 - 89.0 ]

> % B Marginal (IgD+CD27+) 4.0 % [ 2.6 - 7.1 ]

> % B Switch (IgD-CD27+) 16.00 % [ 4.42 - 13.01 ] ****

>

> *NK-lymph*****

>

> % NK CD56+CD3- 6.0 % [ 3.0 - 18.0 ] Abs 49 cels/μl [ 60 - 500 ]

> % Perforin in Lymph NK CD56+CD3- 75.0 % [ > 75.0 ]

> % Perforin in Lymp T CD8+ 25.0 % [ 3.0 - 35.0 ]

>

> *T cell functional studies*****

>

> Normal T cell STAT5 phosphorylation stimulated with IL-2 and/or IL-7****

>

> *Lymphoproliferative response*

> Control 348 cpm [N <1000 ]****

>

> *PHA 4212 cpm* [N > 35000 ]

> *Ionomycin + PMA 38284 cpm* [N > 40000 ]****

>

> *Immunochemistry

> *Normal: IgG 1190 mg/dl, IgA 213 mg/dl, IgM 147 mg/dl, IgE 9 IU / ml*

> *C3 & C4: normal****

>

> *Autoantibodies*****

>

> Autoimmunity: NEG****

>

> *Genetic test for Immunodeficiency

> RAG1/2 sequence: normal

>

> Viral Serology*****

>

> - HIV neg (x2). HBV: AgHBV +, IgG HBc +, AntiHBe + ****

>

> *

> Next step? when would you consider HSCT?*****

>

> Best regards,

>

>

> Luis Ignacio Gonzalez Granado

> Luis Allende Martinez

>

>

> Immunodeficiencies. Hospital 12 octubreMadrid. Spain ****

>

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