[CIS PIDD] 14y.o autoimmune haemolytic anemia and profound CD4 lymphopenia
Nacho Gonzalez
nachgonzalez at gmail.com
Wed Aug 15 14:36:05 EDT 2012
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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