[CIS PIDD] [cis-pidd] Severe Dysregulatory Syndrome/ Growth failure/ Absent B cells

[CIS-PIDD]

Hello, it could be also THE syndrome (Tricohepatoenteric syndrome). 
Elie


Elie Haddad, MD, PhD,
Professor of Pediatrics, University of Montreal,
Head, Pediatric Immunology and Rheumatology Division,
CHU Sainte-Justine, 3175 Cote Sainte-Catherine
Montreal, QC, H3T 1C5, Canada
Ph: 1 514 345 4713
fax: 1 514 345 4897
e-mail: elie.haddad at umontreal.ca





> Le 2017-03-03 à 09:18, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> a écrit :
> 
> I would apprecite your thoughts about this case: 1 y.o and 4 months baby girl with dysregulatory syndrome presenting generalized serosis, suppurative erythematous exanthema, severe eosinophilia and malabsorptive syndrome from birth. Severe explosive diarrhea. Congenital hypothyroidism and severe growth failure.
> 
> Skin biopsy: psoriasiform dermatitis
> 
> Hair and eyelashes biopsy: Atypical Tricorrexis
> 
>  
> Immune laboratory: 
> 
> ·  Agammaglobulinemia (IgG, A and M)
> 
> ·  Absence of B lymphocytes in peripheral blood.
> 
> ·  Normal T lymphocyte subpopulations 
> 
> ·  Hypereosinophilia
> 
> ·  IgE dosage lower than detection limit.
> 
> ·  Normal lymphoproliferation assay (PHA, OKT3, SEB)
> 
> ·  Decreased CD4 + CD25 + CD127low)  
> 
> ·  FOXp3 + cells: 2.83% (2.63-8.6% p5-p95)
> 
> ·  Absent LTh17 + cells 
> 
> The high resolution karyotype was normal.
> 
>  
> NGS TrueSight one pannel: DCLRE1C (c.512C>G;p.Pro171Arg)  AND  LIG4 (c.1437G>T; p.Met479Ile), both Heterocygous
> 
>  
> Treatment:
> 
> Gammagloboulin 1g/kg/15 days
> Free cow milk protein diet. Hidrolized milk
> Meprednisone 1mg/kg/day
> Paliative treatement: Carbinoxamin. Gabepentin. Paracetamol. Lorazepam. Difenhidramin, ondansetron.
> Trimetoprim. Sulfametoxazol (4 mg: 5ml) 5 mg/kg/day
> Omeprazol
> Levotiroxin
> Fluticasone
> Montelukast
> Rapamycin
> Suplements and vitamins
>  
> She presented suddenly an ulceration of her BCG scar
> 
> Last blood cultures were positive for Klebsiella.
> 
>  
> Despite treatment and multidisciplinary following the patient presents bad evolution without clinical resolution, she is really severe. We suspect a dysregulatory syndrome. HLA studies are still pending.
> 
>  
> We would like to know if you think that the combination of these two heterozygous mutations could be the cause of this clinic, or if we should go deeper and do the exome sequencing.
> 
> 
> 
> Thank you in advance!!
> 
> 
> 
> María Soledad Caldirola
> 
> Biochemist, PhD Fellow
> 
> "Ricardo Gutierrez" Children's Hospital
> 
> Buenos Aires, Argentina
> 
> 
> 
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