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

[Nacho Gonzalez]

Dear Dewton,

thanks for your prompt reply and inputs. Neurological exam is normal.
Academic achievements ok. Normocephalic without dysmorphic features. ADA
enzimatic assay and response to vaccines are pending. I´ll review acid uric
levels.
Without opportunistic infections to date.

Best regards,

Nacho
H 12 octubre. Madrid. Spain

2012/8/15 Dewton Vasconcelos <dmvascon at usp.br>


>  Dear Nacho, good morning

>

> I think that the patient should resemble a purine nucleoside phosphorylase

> deficiency (does he present any neurological manifestation?). In this case

> uric acid quantification might be very useful for screening. Moreover, ADA

> deficiency is also possible, presenting progressive deterioration of the

> immune system.

>

> The lymphocyte phenotyping shows decreased thymic output with very low

> naïve T cells and low response to T cell activation through membrane

> signaling (low to PHA, almost normal to PMA/Iono, showing that below

> protein kinase C the signaling is OK). This should drive us to a defect on

> p56lck or UNC119.

>

> Nevertheless he presents low T and B, suggesting as you looked for,

> defects in TCR and BCR recombination. Does he present radiosensitivity?

> (Artemis) Any abnormal features? (Cernunnos, DNA lig4, ICF etc)

>

> What about the T and B cell responses to antigens? Does he respond to

> memory or new antigens?

> Did he present opportunistic infections?

>

> Best regards,

>

> Dewton Vasconcelos

> University of São Paulo School of Medicine

>

>

>

> Nacho Gonzalez wrote:

>

> 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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