[CIS PIDD] [cis-pidd] T cell lymphopenia/cryptococcal meningitis

Tue Oct 6 12:30:05 EDT 2015

Este caso tiene comentarios interesantísimos aplicables al Sr. Teddy.
Por favor Aldo que no se te escape ningún comentario.
Revisamos los 4 últimos casos el próximo viernes:
- IgM elevada inexplicada: Guisela o Anita creo.
- IgM elevada persistente a EBV: Guisela o Anita.
- IFN en DOCK8: Joel creo.
- El presente caso: Aldo.

Juan Carlos Aldave, MD
Allergy and Clinical Immunology
Lima, Perú

A Dios sea la gloria!

El 6 oct. 2015, a las 6:54 a.m., CIS-PIDD <cis-pidd at lists.clinimmsoc.org> escribió:

> Hi all, 
> 
> I genetically have had rather more negative results than Klaus and Kate, in adults. 
> 
> I BTW liked Klaus's article - again - recommend to read it. We heard about the gene from Klaus early on but did not find it mutated from any of our patients. 
> 
> We have now checked about 10+ late-onset lymphopenia patients (w/o sarcoidosis/SLE or like), but often w. autoimmune /inflammatory disease (reason for CBC and lymphocyte differentials) and primary, often rather severe lymphopenia with WES. 
> 
> We do have one likely novel candidate for one patient, one potential known candidate (but phenotype and mode of inheritance in that case should be different) for one patient, one with cytokineAbs, and no others and "no low hanging fruits". 
> 
> We even have one patient with extremely (!) low CD4, CD8 and NK counts for more than 10 years now, her only problems are warts and asthma. 
> ..............So Larry, if you end up doing WES/WGS with yours and find nothing of clear interest, it would be worthwhile to do side by side comparisons??
> 
> For the last 10+ years I have wondered, whether these, often mildly symptomatic patients have a homing defect of sorts, but we found no exonic mutations in known homing receptors either. 
> 
> ATB
> 
> Mikko
> 
> 
> oyl Mikko Seppänen
> Harvinaissairauksien yksikkö (HAKE), HUS
>  
> Mikko Seppänen, MD, PhD, Associate professor 
> Specialist in Internal Medicine and Infectious Diseases
> Chief, Rare Disease Center, Helsinki University Hospital (HUH)
> Children's Hospital, P.O.Box 280
> FI-00029 HUS
> FINLAND
> &
> Senior Consultant (PIDD)
> Adult Immunodeficiency Unit
> Inflammation Center, HUH
> 
> phone +358 9 47180201
> GSM +358 50 4279606
> fax +358 9 47174703
> 
> 
> 
> 
> -----Alkuperäinen viesti-----
> Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
> Lähetetty: 6. lokakuuta 2015 13:54
> Vastaanottaja: CIS-PIDD
> Aihe: AW: [cis-pidd] T cell lymphopenia/cryptococcal meningitis
> 
> I agree with Kate, 
> we also had 3 adult patients with IL7 deficiency (not receptor, ligand; Horev et al JAAD 2015) who presented with T cell lymphopenia (but not zero and more on the CD4 side) and cryptococcal meningitis, all of them had additional verrucosis, any sign of warts?
> Happy to test serum if wished for.
> 
> best regards
> 
> klaus
> 
> 
> Prof. Dr. med. Klaus Warnatz
> 
> MEDICAL CENTER - UNIVERSITY OF FREIBURG
> Center for Chronic Immunodeficiency - CCI
> Department of Rheumatology and Clinical Immunology
> 
> Breisacher Str. 117, 79106 Freiburg, Germany
> Tel. +49 761 270 77640 / FAX -71000 / Pager 12-7100
> klaus.warnatz at uniklinik-freiburg.de
> 
> www.uniklinik-freiburg.de/cci
> 
> 
> ________________________________________
> Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
> Gesendet: Dienstag, 6. Oktober 2015 12:33
> An: CIS-PIDD
> Betreff: Re: [cis-pidd] T cell lymphopenia/cryptococcal meningitis
> 
> I think with ALL T cells being low it is more likely to be a late onset SCID-like process.  I know it seems crazy at this age, but it does happen.  Rare for autoantibodies to attack all T cells and to get them to zero.
> 
> 
> Kate Sullivan, MD PhD
> Wallace Chair
> Chief of Allergy Immunology
> ARC 1216 CHOP
> 3615 Civic Center Blvd.
> Philadelphia, PA 19104
> (p) 215-590-1697
> (f) 267-426-0363
> 
> 
> 
>> On Oct 5, 2015, at 9:28 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
>> 
>> Posting on behalf of Larry Borish <lb4m at virginia.edu>:
>> 
>> 52 previously completely healthy M.  Presents to hospital with cryptococcus meningitis.  CD4's are 0.  No big surprise there.  But CD8s are also 0.  CD3s are 0.  CD19/CD20 and IG's all normal.  NKs slightly low.  Chest CT is not remarkable.  No thymoma and no lymphadenopathy.  His bone marrow normal, except for absence of CD3, CD4, and CD8 cells.  But nothing to suggest lymphoma.
>> 
>> I suspect autoimmune but can't get my laboratory to do indirect IF.  Does anyone have any other ideas or know of a lab who can screen for autoantibodies?
>> 
>> Larry Borish, M.D.
>> Professor of Medicine
>> Asthma and Allergic Disease Center
>> University of Virginia
>> Charlottesville, VA 22908
>> (434) 243-6570
>> lb4m at virginia.edu
>> 
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