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

[Nacho Gonzalez]

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/**μ**l*,
%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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