We are the reference laboratory for Human BCL10 Deficiency. BCL10 deficiency is an autosomal recessive primary immunodeficiency responsible of combine immunodeficiency. Our laboratory has reported the two patients described to date due to this deficiency:

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

Human BCL10 Deficiency due to Homozygosity for a Rare Allele
Table summarizes the main genetic, clinical, immunological and cellular features comparing both BCL10-deficient patients:

  P1 P2
Mutation g.85741978C > T; IVS1+1G>A g.85270702G>A, c.262C>T, p.R88X
Zygosity Homozygosis, consanguienous parents Homozygosis, consanguienous parents
Protein expression No No
Main Clinical Features 6mo: Gastroenteritis, otitis and respiratory infections. 1mo: Flare of the BCG scar with increased erythema and swelling
8mo: Viral infection (flu A and B, adenovirus; respiratory syncytial virus (RSV)); acute secondary respiratory failure, oral candidiasis and diaper dermatitis. 6mo: Severe viral lower respiratory tract infection and palatal ulcers
13mo: Prolonged diarrhea (Campylobacter jejuni).

18mo: Diarrhea. Active chronic colitis.

2y 5mo: Acute gastroenteritis (adenovirus) and respiratory infection (RSV).

2y 8mo: Diarrhea (adenovirus). Chronic non-specific colitis.

8mo and 10mo: lower respiratory tract infections not requiring hospitalisation
2y 10mo: Seizures and status epilepticus. Secondary diffuse leukoencephalopathy. 11mo: Acute onset respiratory distress (Mycobacterium tuberculosis was  and no evidence fungal infection)
3y 4mo: Diarrhea (Clostridium difficile). Dizziness, disorientation and generalized weakness with focal abnormal movements. Suspected encephalitis. Died due to respiratory failure. At 2 years of age, he suffered one episode of febrile convulsion
Cellular phenotype Fibroblasts:

Impaired TLR4, TLR2/6, Dectin-1 signaling.

Fibroblasts:

Impaired TLR4, TLR2/6, Dectin-1 signaling.

B cells:

Hypogammaglobulinemia.

Lack of memory B cells.

B cells:

Hypogammaglobulinemia.

Deficit of memory B cells.

T cells:

Normal total T cell number.

Deficit of memory T cells.

T-cell proliferation in response to TCR blocked.

T cells:

Normal total T cell number.

Deficit of memory T cells.

 

If you have a patient with a suspect of BCL10 deficiency you can contact with us ( rebeca.perez@idipaz.es ) and we will characterize him.