[CIS PIDD] [cis-pidd] 2yo with hemolytic anemia and T/B abnormalities

[dmvascon at usp.br]

Hypomorphic common gamma chain (CD132) mutations can present like that. STAT5 phosphorylation assay can be used for screening CD132, as well as CD25 and STAT5b mutations. 
Moreover, MHC class II deficiency can present with a very similar course (although usually with severe diarrhea) with low CD4s, combined immunodeficiency with normal counts of B cells and some cases of hematological autoimmunity (there are a few patients with selective depletion of MHC-2 in monocyte derived cells or B cells). 

Best regards, 

Dewton de Moraes Vasconcelos 
University of São Paulo School of Medicine 

----- Mensagem original -----


> De: "Megan Cooper" <Cooper_M at kids.wustl.edu>

> Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>

> Enviadas: Terça-feira, 11 de Dezembro de 2012 15:18:02

> Assunto: [cis-pidd] 2yo with hemolytic anemia and T/B abnormalities



> Hi Everyone,



> I saw an interesting patient as a consult from our Heme/Onc doctors

> and was wondering if anyone had thoughts about a potential

> diagnosis. This is a 3yo who had refractory hemolytic anemia at age

> 2 yo (unknown cause after extensive testing, possibly autoimmune)

> with subsequent pancytopenia thought to be d/t splenic congestion.

> His cytopenias and anemia resolved with splenectomy. He has had

> recurrent upper respiratory infections and an immune work-up is

> significant for low CD4 count with an activated/memory phenotype and

> very poor proliferation (0 to candida and tetanus; low with

> mitogens); elevated B cells but very low % class switched; normal

> total immunoglobulins with non-protective tetanus titer (did respond

> to vaccine) and strep pneumo titers (did not respond to prevnar).



> He has not had any serious infections, is well grown and developing

> normally.



> Testing so far has included a negative ALPS screen, positive

> expression of CD40/CD40L, normal PNP. Pending is AID and UNG

> sequencing, and I’ll probably send Rag/artemis for hypomorphic

> mutations as well (although he doesn’t really fit except for

> activated/possibly oligoclonal T cells). Some specific labs are

> below.



> Any thoughts are appreciated. I’m also wondering if some of his

> immunologic abnormalities might be due to splenectomy – I’m doubtful

> of this but don’t have a lot of experience testing kids after

> splenectomy.



> Thanks,



> Megan



> Megan A. Cooper, MD, PhD

> Assistant Professor, Department of Pediatrics

> Division of Rheumatology

> Washington University School of Medicine

> Cooper_m at kids.wustl.edu

> Lab website:

> http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M

> (lab office) 314-286-0262

> (Rheum office) 314-454-6124

> (lab fax) 314-286-2895

> (Rheum fax) 314-454-4861



> Specific labs:

> IgG 409; M 86; A 19; E 7.9



> CD4 – 558 cells/ul (HIV negative)

> CD8 – 1766

> CD19 – 5020

> CD56/16 – 1394

> Class I – present on all

> HLA-DR – present on all B cells

> CD40 + on all B cells

> CD40L – 2% CD4s resting; 44% CD4s activated (ref 79-96%)



> CVID flow panel:

> T cells - CD4RA 27%; CD4 RO 64%; HLA DR CD4 2%; HLADR CD8 11%

> B cells - CD21+CD27- 64%; CD21-CD27+ 0%; CD21+CD27+1%; IgD+CD27- 92%



> DNT screen – 0.3% DNTs

> Other T cell phenotyping with DNT screen: CD3+CD25+ count 157 (low,

> ref 273-599); CD3+HLADR+ 1804 (high - ref 51-246)



> Proliferation – very poor to PWM, PHA, candida, & tetanus (before

> re-vaccination). His Candida and Tetanus proliferation was actually

> 0% (flow assay) with decent cell viability and some proliferation to

> mitogens



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