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

[Nacho Gonzalez]

Thanks Carsten,

No way,in Spain DBS is kept for around two years.And the patient is Chinese
Nacho
 El 16/08/2012 14:15, "Dr. Carsten Speckmann" <
carsten.speckmann at uniklinik-freiburg.de> escribió:


> **

> Any chance to get the original Guthrie card from birth - to look for

> TRECS/KRECS. That would ease interpretation of the currently low naive Ts

> (congenital problem of thymic output / combined ID vs. secondary loss).

> Best wishes, Carsten

>

> --

> Dr. med. Carsten Speckmann

> Facharzt

> Zentrum fuer Kinderheilkunde und Jugendmedizin

> Centrum fuer Chronische Immundefizienz - CCI

> Universitaet Freiburg

> Mathildenstr. 1

> 79106 Freiburg

> Germany

>

> phone: +49 (0)761-270 43010

> mail: carsten.speckmann at uniklinik-freiburg.de

> web: www.cci.uniklinik-freiburg.de

>

>

>

> Am 16.08.12 14:10, schrieb 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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