[CIS PIDD] [cis-pidd] TACI and autoimmunity

[CIS-PIDD]

Dear all,

We would appreciate your advice regarding a 28 year old woman with several
autoimmune features: dactylitis, celiac disease, autoimmune thyroiditis and
multiple sclerosis. No remarkable infections so far. She is currently under
the care of our adult rheumatologist and more or less controlled with
intermittent corticosteroids and teriflunomide.

Her most recent immunological data:
Normal number of T and B cells
Lowish NK cell numbers
Normal IgG (including subclasses), IgA and IgM levels, normal vaccine
response (only total IgG2 levels for Pneumococcus available)

- 15,64% Tregs: CD4+/CD25+ of T CD4+, 0,79% with FoxP3 expression
- 9,85% TH17 CD4+/CD161+/CD196 of T CD4+ (and 2,04% of total lymphocytes)

- B cell panel:
   - 44,43%  (CD19+/IgD+/CD27-),
   - 47,00% (CD19+/CD27+)
   - 12,81%  (CD19+/IgD+/CD27+),
   - 34,19% (CD19+/IgD-/CD27+)
   - 8,56% (CD19+/IgD-/CD27-)
Transitional B cells: 6,47% d
CD21 low: 5,54%
Plasmablasts: 2,18% (2660 células/ml)

 CD4+/CD45RA+/CD45RO-: 39,91%
 CD4+/CD45RA-/CD45RO+: 40,39%
 CD4+/CD45RA+/CD45RO+: 18,31%
 CD8+/CD45RA+/CD45RO-: 61,41%
 CD8+/CD45RA-/CD45RO+: 19,77%
 CD8+/CD45RA+/CD45RO+: 15,81%
 CD4+/CD38+: 38,99%
 CD4+/HLA-DR+: 6,09%
 CD4+/CD38+/HLA-DR+: 1,64%
 CD4+/CD38-/HLA-DR-: 34,51%
 CD8+/CD38+: 61,14%
 CD8+/HLA-DR+: 14,00%
 CD8+/CD38+/HLA-DR+: 7,23%
 CD8+/CD38-/HLA-DR-: 32,09%

We included her in our in-house PID chip (IonTorrent platform) and found a
heterozygous mutation in TACI with a stop codon just in the beginning of
the gene (p.Arg9Ter), later confirmed by Sanger. No mutations were
identified in other "candidate genes" such as CTLA4, LRBA, PIK3, STAT1,
STAT3,..

Her father also carries the same mutation but he is completely
asymptomatic. All other tested family members are asymptomatic and tested
negative for the mutation.

We would appreciate your opinion regarding this "finding" and wonder if
someone has been involved in the care of TACI patients with similar
clinical/lab features (progressive autoimmune manifestations, low Tregs but
apparently normal antibody production).

Many thanks in advance for your thoughts!

Peter Olbrich
FEA Pediatría
Infectologia Pediátrica e Inmunopatologias
H.U. Virgen del Rocío Sevilla
SPAIN

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