[CIS PIDD] [cis-pidd] FW: Infant- NKT Lymphoma UPDATE

[CIS-PIDD]

Dear Amy,

Can I share this email with Raphaela at NIH? And if possible can you give me your personal email? 


Thanks,

Leo 

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 Mar 20, 2017, at 10:28 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> I wanted to provide an update to the group on this patient below.  WES revealed a variant of unknown clinical significance in NLRP3 (autosomal dominant, heterozygous, from mother, variant pA67G, c.200 C>G).
>  
> I would welcome any further insight or experience from this group as we try to understand genotype and phenotype. Thanks in advance for your expertise and advice.
>  
> Kindest regards,
> Amy Scurlock
>  
> From: Scurlock, Amy M 
> Sent: Tuesday, March 07, 2017 2:35 PM
> To: 'cis-pidd at lists.clinimmsoc.org' <cis-pidd at lists.clinimmsoc.org>
> Subject: Infant- NKT Lymphoma
>  
> Dear colleagues: 
>  
> Our team would welcome your thoughts and input regarding a complex case of an infant with new diagnosis of atypical NKT lymphoma.  Specifically, we would welcome suggestions as to whether there is a particular associated immunodeficiency or immune defect that we should be considering.  WES has been sent and is pending.  Case summary is listed below- thanks in advance for your assistance.  Amy
>  
> CASE:    
> 3 mo-old Asian female admitted on  1/13/17 for FTT, grossly bloody stools, anemia, and a malar rash (raised, plaques, violaceous/hemorrhagic appearance).   She has been afebrile and has not had any adenopathy or organomegaly.  She has had no other rash besides the malar area.  Multi-specialty work-up was undertaken including upper and lower endoscopy on 1/26 which showed extensive gastric ulceration as well as less ulceration in the sigmoid colon.
>  
> Immunology work-up showed the following:
> ALC – range 2,000-3400
> OXB nl
> IgG and M low (112.7 and 19) (felt to be due to protein loss in stool), IgA elevated 62, IgE 13, IgD<0.7
> Flow: low NK cells (1%/52) but normal T cells (CD3 80%/4656 with normal CD4, CD8, RA/RO, alpha/beta/gamma/delta) and low normal B cells (6%/314).  Thymus is normal on CT.  SCID newborn screen normal.  EBV negative. 
>  
> The working diagnosis was initially early-onset IBD (GI team consulted with experts in very early onset IBD-VEO-IBD).  Skin biopsy of worsening malar rash was performed on 2/6/17 and while path was pending  1.5 mg/kg div BID of methylprednisolone was started on 2/9/17 for presumed IBD.  Rash and bloody stools have improved dramatically on steroids though stools continue to be guaiac positive.
>  
> Local dermatopathologists signed out skin biopsy as possible T/NK cell lymphoma on 2/17/17 at which time hem/onc was consulted.  We elected to  continue steroids due to clinical improvement at the risk of obscuring diagnostic work-up as she had already been on steroids for 8 days when hem/onc got involved.  Diagnostic work-up for lymphoma included: CT of neck through pelvis on 2/18 was negative for masses or organomegaly.  PET scan on 2/24 was negative but as noted pt had been on steroids for over a week.  CSF negative for abnl cells.  Bone marrow aspirate was negative by morphology and flow.   Re-review of original GI biopsies with new stains led pathology to feel  they were consistent with the lymphomatous process seen in the skin. 
>  
> GI and skin specimens were sent to Dr. Elaine Jaffe at the NIH for second opinion.  Her report was signed out 3/1/17 as “an atypical NK-cell lymphoproliferation…a neoplastic process cannot be excluded.”  
>  
> Clinically, patient has been stable throughout admission on RA with stable vital signs.  She has been on and off p.o. feeds/TPN due to mild to moderate GI bleeding.   She is gaining weight.  She was continued on 1.5mg/kg/day  until 3/5 when  a slow wean was initiated while awaiting whole genome exome sequencing results (possible results next week).  She is currently primarily managed by Hem-Onc inpatient service with multiple consulting services involved. 
>  
> Thank you in advance for your thoughts.
>  
>  
> Amy M. Scurlock, M.D., F.A.A.P
> Associate Professor, Department of Pediatrics
> Division of Pediatric Allergy/Immunology
> University of Arkansas for Medical Sciences
> Arkansas Children's Hospital
> 13 Children's Way, Slot 512-13
> Little Rock, Arkansas 72202
> Phone: (501) 364-1060
> Fax: (501) 364-3173
>  
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