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

[CIS-PIDD]

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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