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

[CIS-PIDD]

Dear Leonardo,

Thank you for your answer,

That's probably going to be out next step.
However, since the patient have no suggestive sign or history of
autoinflammation, but prominent ID features, i'm unsure if testing
singularly MEFV or an AID gene panel is appropriate, and I'm thinking to
endorse an unbiased approach (WES) instead.

Boaz

On Wed, Dec 14, 2016 at 11:52 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> 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 <+55%2011%203864-2246>
> 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 <+39%20392%20716%209114>
>
> 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 <+39%20392%20716%209114>
>>
>
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