[CIS PIDD] Eczema turns into lymphoma at age 17.

[Saul Oswaldo Lugo Reyes]

  Dear friends,

   Thanks a lot for your insight and suggestions.

Dr Dewton de Moraes:

   I did consider DOCK8 in the Ddx, although it would be a long shot
considering age at onset, no other isolates or sites of infection, and
no eosinophilia or high IgE.

Dr Holland:

    It is indeed odd.  I can't explain, for instance, why he would
have complex partial seizures and transient left hemiparesia.

    HTLV1: great call, thank you for pointing that out.  It causes
erythrodermia, which is how this patient first presented, and also
cutaneous T-cell lymphoma. It hasn't been ruled out.  I haven't been
able to learn who in Mexico detects HTLV, but I sure would like to do
it.

     About the lab findings, I checked and he started chemo by the end
of April.  The flow cytometry reporting "No CD19" is from april 24th,
and he never received rituximab, so I would think that one is
reliable.  Still, I would like to confirm those as soon as possible.

     And yes, I'd love to send you some gDNA if you're so kind as to
help us with the sequencing of GATA2.  I also have one from a
24-year-old male with disseminated mollusca and low B and NK cells.  I
can send you both now.

      Thank you very much.


  Sincerely,

 Saul Lugo Reyes.



2012/7/25 Holland, Steven (NIH/NIAID) [E] <SHOLLAND at niaid.nih.gov>:

> Thanks, Juan.

>

> Saul, that is an odd case. Did the low B and NK and monos come before the chemo? A hypoplastic marrow certainly suggests the possibility of GATA2 in a child, so I would check it, but I have not seen CTCL in this setting. Has HTLV1 been checked? If you want to check GATA2 let me know.

>

> Steve

>

>

> On 7/25/12 8:13 PM, "Juan Carlos Aldave Becerra" <jucapul_84 at hotmail.com> wrote:

>

> Dear Saul,

>

> Dr. Steve Holland may help you about GATA2. sholland at niaid.nih.gov

>

> Best regards,

>

> Juan

>

> Juan Carlos Aldave, MD

> Allergy and Clinical Immunology

> Rebagliati Martins National Hospital - Lima, Peru

>

>

>

>> Date: Wed, 25 Jul 2012 11:14:02 -0500

>> From: dr.lugo.reyes at gmail.com

>> To: pagid at list.clinimmsoc.org

>> Subject: [CIS PIDD] Eczema turns into lymphoma at age 17.

>>

>>   Dear friends and colleagues,

>>

>>     I've been consulted about the case of a 17 year-old young man who

>> started at age 13 with severe, extensive, recalcitrant eczema.   He

>> actually ended up in the ICU when his lesions impetiginized and he

>> developed septic shock.

>>

>>     At 14, he suffered from periorbital varioliform Kaposi (HVV8

>> related), and then at 15 with disseminated "Mucha-Habermann's"

>> Lymphoid papulomatosis.  At 16, extensive ulcerated nodules and

>> pustules were biopsied and proved to be cutaneous T-cell lymphoma,

>> mostly CD30+, positive for EBNA and with very high serologic titers

>> for EBV.  Bone marrow aspirate shows hypoplasia without fibrosis.

>>

>>      He even had complex seizures and transient hemiparesia, but no

>> CNS infiltration or lymph node or bone extension could be found by CT,

>> CSF and PET scan.

>>

>>      He's been given chemotherapy and immunosupressants and is

>> responding well, with no evidence of methastases.

>>

>>      Now, the possibility of a PID was never really entertained, and

>> so we don't have a reliable immunological workup.

>>

>>      There's been lymphopenia, monocytopenia, no B cells and low-ish

>> NK cells, but they could be due to the chemo.

>>

>>      Serum immunoglobulins, including IgE, are normal.    HIV negative.

>>

>>  To sum up,

>>

>>    Age of onset 13 years old,

>>    Severe recalcitrant eczema,

>>    Sepsis

>>    Cutaneous infections by HVV8 and EBV

>>    Cutaneous T-cell lymphoma

>>    Normal immunoglobulins.  HIV neg.

>>

>>    Lymphopenia, monocytopenia, no B-cells, lowish NK-cells.   ....?

>>    Hypoplastic bone marrow, with no fibrosis.                          .....?

>>

>>    Could this be GATA2/MonoMAC?

>>

>>     I mean, the age of onset, susceptibility to cutaneous viral

>> infections and malignancy would suggest it, although it's not an

>> "archetypical" case.

>>

>>     Sadly, I don't think I can rely on the labs now.  But the boy is

>> alive, and I would like to pursue his diagnosis as soon as I can.

>>

>>    Thank you in advance for your time, and any comments or suggestions

>> you may have.

>>

>>    Sincerely,

>>

>>  Saul Lugo Reyes.

>>

>>

>>

>>

>>

>>

>>

>>

>>

>>

>>

>>

>> --

>> Saúl Oswaldo Lugo Reyes

>>

>> Investigador en Ciencias Médicas

>> Unidad de Investigacion en Inmunodeficiencias

>> 9° piso, Torre de Investigacion,

>> Instituto Nacional de Pediatria

>> Coyoacan 04530 DF, Mexico

>> +52(55)10840900 ext. 1866

>> --------------------------------------

>> "La penicilline guérit les humains; le vin les rend heureux"

>> "If penicillin cures sicknesses, Jerez resuscitates dead people". -Sir

>> Alexander Fleming

>

>

>

> Chief, Laboratory of Clinical Infectious Diseases, NIAID, NIH

> CRC B3-4141 MSC 1684

> 301-402-7684 voice

> 301-480-4507 fax

> smh at nih.gov

> Assistant: Adrienne Snyder

> 301-451-9019 voice

> 301-480-4507 fax

> asnyder at niaid.nih.gov

>

>




-- 
Saúl Oswaldo Lugo Reyes

Investigador en Ciencias Médicas
Unidad de Investigacion en Inmunodeficiencias
9° piso, Torre de Investigacion,
Instituto Nacional de Pediatria
Coyoacan 04530 DF, Mexico
+52(55)10840900 ext. 1866
--------------------------------------
"La penicilline guérit les humains; le vin les rend heureux"
"If penicillin cures sicknesses, Jerez resuscitates dead people". -Sir
Alexander Fleming