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

[Dr. Carsten Speckmann]

  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 

> <mailto: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>

>     [mailto: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 <mailto: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

>     <mailto: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>

>     [mailto: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 <mailto: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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