[CIS PIDD] [cis-pidd] Secondary amyloidosis and lack of memory T cells

[CIS-PIDD]

Have you tested for the AID genes?

Leonardo Oliveira Mendonça
Médico Especialista em Imunologia Clínica e Alergia, Doenças Autoimunes e Autoinflamatórias
Médico Especialista em Clínica Médica/Medicina Interna

Leonardo Oliveira Mendonça, MD
Specialist in Clinical Immunology and Allergy, Autoimmune and Autoinflammatory disorders
Consultant Specialist in Internal Medicine

E-mail: leonardo.oliveira.mendonca at gmail.com
Telefone/Phone Number: +55-11-3864-2246
Endereço/Adress: rua Heitor penteado, 477 - Sumarezinho - São Paulo - Brasil

> On Dec 14, 2016, at 2:44 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Dear all,
> 
> Quick update: 
> proliferations and TLR responses are normal, as well as antibody responses.
> I rechecked the T cell subpopulation using both CD45RA and CD45RO: he actually have a large population ( around 40% of CD4 and 60% of CD8) expressing BOTH CD45RA and RO, but no lymphocytes CD45RO single positive.
> 
> Summary: 
> 33 yo male, esophageal atresia, recurrent respiratory infections with bronchiectasias since childhood, diagnosed with secondary amyloidosis (renal, cardiac), no signs of autoinflammatory disease 
> Norma relative and absolute numbers of leukocytes, but with skewed CD45RA/RO T cells.
> Low-ish IgG/A/M (probably due to renal loss -> nephrotic syndrome due to amyloidosis)
> 
> I was thinking CF or a primary ciliary dyskinesia could explain the immunedeficiency and the bronchiectasis, and therefore the amyloidosis... but I don't understand the CD45RA/RO phenotype.  
> 
> Any suggestions? 
> Thank you for your time!
> 
> Boaz Palterer, MD
> Department of Clinical and Experimental Medicine
> Unit of Allergology and Clinical Immunology
> University of Florence, Italy
> email: boaz.palterer at gmail.com
> cell: +39 392 7169114
> 
>> On Wed, Nov 30, 2016 at 3:42 PM, Boaz Palterer <boaz.palterer at gmail.com> wrote:
>> Dear all, 
>> 
>> 33yo male referred from our nephrology dept, where he was admitted with ESRD and nephrotic syndrome, and was diagnosed with secondary amyloidosis. 
>> 
>> Familial and personal history are negative for autoinflammatory or autoimmune symptoms, however SAA is chronically elevated. 
>> As a newborn he had esophageal atresia.
>> 
>> Prior medical history is hard to assess, however it seems he had early onset, recurrent and severe pulmonary infections (bronchiectasias, chronic bronchiolitis), serum IgG are now low-ish  but probably due to protein loss, IgM and IgA are normal.
>> 
>> Leukocyte counts are normal, B lymphocytes phenotype is normal, T cell however look like this: totally CD45RA+
>> <patient.png>
>> From the literature I've found that CD45RA skewing can be seen in mutation of the NFKB (IKBA, IKBKB) pathway and CBL signalasome (MALT1, CARD11)... Anything else that I should be aware of that might cause an immunological picture like this?
>> 
>> He might  have had a growth defect (he is short). Skin is dry and hair is scarse and thin, but it could be due to the end stage renal disease... teeth are nails are normal. 
>> 
>> How would you proceed?
>> I sent for:
>> - mitogen proliferation
>> - TLR response
>> - polysaccharide and vaccination responses
>> 
>> Thank you for your time!
>> 
>> Boaz Palterer, MD
>> Department of Clinical and Experimental Medicine
>> Unit of Allergology and Clinical Immunology
>> University of Florence
>> email: boaz.palterer at gmail.com
>> cell: +39 392 7169114
> 
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