[PAGID] Hypogamma with monoclonal IgM, Lymphopenia, no B-cells, high ratio of CD4+/CD8+ cells

[Kathleen E. Sullivan]

I have had two patients with not-quite SCID (combined immune  
deficiency) who were similar.  Neither child's family would agree to  
BMT and both kids have gone on to have both autoimmune disease and  
significant opportunistic infections.

You will soon know the T cell function and you can use that to guide  
your treatment plan.

Kate
Kathleen E. Sullivan MD PhD
Chief, Division of Allergy and Immunology
Professor of Pediatrics
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363


On Feb 2, 2009, at 7:31 AM, Maria Kanariou wrote:


> I would appreciate suggestions on the diagnosis and management of a  

> case regarding a 6 month-old boy, with Interstitial Pneumonitis  

> (following viral gastroenteritis), low IgG, high IgM levels  

> (monoclonal IgM) and Lymphopenia with almost no B-cells, high  

> percentage of T-cells with extremely high ratio of CD4+/CD8+  

> cells.  It has to be noticed that only immunoglobins have been  

> performed at his admission.

>

> At the age of 5,5 months he was admitted at the Pediatric Dept,  

> because of an episode of febrile diarrhea, vomiting and decreased  

> feeding and loss of weight. He received  “fluids” and  

> metronidazol. Dyspnea, tachypnea, desaturation and grunting were  

> added and he was transferred to the PICU. His sister and parents  

> had similar episode without any complication.

>

> The chest radiograph showed diffuse confluent opacities mainly in  

> lower lobes and methylprednisolone (2mg/kg) was given and chest CT  

> showed consolidations-atelectasies mainly in lower lobes with many  

> interstitial elements and hyperinflation in upper parts, and lymph  

> nodes smaller than 8mm in axillae bilaterally.

>

> On a PBC before admission, he had Lymphopenia (15%, 1.880/μl).  

> During hospitalization his Lymphopenia was more prominent with  

> Lymphocyte counts ranging around 600/μl. (Noticeable that he had  

> received corticosteroids).

>

> IgG levels were constantly low, IgA levels were normal for his age  

> and IgM levels were initially remarkably elevated (205 mg/dl) with  

> small zone of monoclonality (IgM-κ). It has decreased to normal  

> after gamma-globulin.

>

> Antibody response to Te, Hib and Pn (after 2 doses of the  

> respective vaccines for his age) was lower than normal.

>

> Hb, PLT, Liver and kidney function as well as the other routine  

> tested parameters were within normal range.

>

> Immunological findings  a week later while he was in PICU and had  

> already received corticosteroids, pentaglobin & IVIG.

>

> WBC: 8600/μl, Lymphocytes: 600/μl (7.2%)

> Lymphocyte immunophenotype in peripheral blood revealed increased  

> percentage but low absolute number of CD3 (89%, 553/μl). Most of  

> the T-cells were CD4+, with only 5%, CD3+CD8+ cells (33/μl) and  

> there was a higher than normal for his ages proportion of memory CD4 

> + cells. B-cells were undetectable.

>

> CD40L expression on stimulated CD4+ (CD8-) lymphocytes was  

> proportionate to that of normal control.

>

> TCR - Vβ repertoire of CD4+ T cells was not skewed

>

> Investigation for himaera showed no maternal lymphocytes.

>

> Lymphocyte immunophenotype in Bone marrow aspiration specimen:

> B-cell precursors were undetectable. A minimal proportion of mature  

> B-cells (CD19+CD10-CD20+) was detected (33 B-cells /100,000  

> nucleated cells) and this finding was interpreted with caution  

> since it is slightly over the detection limit of the method.  

> (Noticeable that there was excessive contamination of peripheral  

> blood).

>

> There is no HLA matched sibling.

>

> Microbiological investigation:

> Clostridium difficile was isolated in fecal culture. PCR in blood  

> and BAL revealed no microorganism (EBV, CMV, Adenovirus, Influenza  

> virus, Enteroviruses, Parvovirus). Mycoplasma and Chlamydia were  

> not detected in BAL fluid. RSV, Rotavirus, HIV negative. Nasal Ag  

> for influenza, Ag in urine for Legionella, BAL for P. carinnii:  

> negative. Screening for Candida and Aspergillus in BAL and Blood:  

> negative).

>

> Management:

> He is under antibiotics (including septrin), antifungal and  

> antiviral drugs.

> Pentaglobin was administered on his admission at the PICU and since  

> then he is under IVIG replacement, and steroids are given  

> systematically.

> The infant remains (about a month) under mechanical ventilation  

> needing FiO2 around 50%, because of deterioration of lung function.

>

>

> Maria Kanariou

>

> Maria G. Kanariou, MD

> Consultant in Paediatric Immunology

> Center for Primary Immunodeficienies-Paediatric Immunology

> "Aghia Sophia" Children's Hospital

> Thivon & Papadiamantopoulou str., Goudi

> 11527 - Athens - Greece

> Tel.: +30-2107467766

> Fax: +30-2107757401

>


-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20090202/15a7d5bd/attachment-0001.htm>