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

[Kumar, Ashish]

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/μl; 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
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20120815/90f0c8ac/attachment-0001.htm>