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 three 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

Clinical and immunological features of human BCL10 deficiency


Table summarizes the main genetic, clinical, immunological and cellular features comparing both BCL10-deficient patients:

 P1P2P3
Mutation g.85741978C > T; IVS1+1G>Ag.85270702G>A, c.262C>T, p.R88Xg. 85270779A>T, c.187A>T, p.K63X
ZygosityHomozygosis, consanguienous parentsHomozygosis, consanguienous parentsHomozygosis, consanguienous parents
Protein expressionNoNoNo
Main Clinical Features6mo: Gastroenteritis, otitis, and respiratory infections. 8mo: Viral infection (flu A and B, adenovirus; respiratory syncytial virus (RSV)); acute secondary respiratory failure, oral candidiasis, and diaper dermatitis. 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. 2y 10mo: Seizures and status epilepticus. Secondary diffuse leukoencephalopathy. 3y 4mo: Diarrhea (Clostridium difficile). Dizziness, disorientation, and generalized weakness with focal abnormal movements. Suspected encephalitis. Died due to respiratory failure.1mo: Flare of the BCG scar with increased erythema and swelling. 6mo: Severe viral lower respiratory tract infection and palatal ulcers 8mo and 10mo: lower respiratory tract infections not requiring hospitalization 11mo: Acute onset respiratory distress (Mycobacterium tuberculosis was  and no evidence fungal infection)1yo: Hospitalized due to pneumonia (bacterial).
Cellular phenotypeB cells: Hypogammaglobulinemia. Lack of memory B cells.B cells: Hypogammaglobulinemia. Deficit of memory B cells.B cells: Hypogammaglobulinemia. Deficit of memory B cells.
Cellular phenotypeT 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.  T cells: Normal total T cell number. Deficit of memory T cells.  
KeysSuspicion: Clinical history of respiratory infections since the first months of age. No memory lymphocytes (or reduced levels) despite normal total cell numbers, hypogammaglobulinemia. Confirmation:  BCL10 sequencing and by measurement of BCL10 protein expression Treatment: HSCT

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