20
IL21R Respiratory tract
infections, failure
to thrive, diarrhea,
cryptosporidiosis
Normal lymphocyte numbers,
↑ IgE, ↓ specific antibody,
normal T-cell function,
↓ NK cytotoxicity
ITK EBV-associated
lymphoproliferation,
lymphoma
Lymphopenia,
hypogammaglobulinemia
MHC class I
deficiency (TAP1,
TAP2, TAPBP),
CD8A
Variable severity,
recurrent respiratory tract
infections, bronchiectasis
Complete absence of CD8
+
cells, normal CD4 cells, normal
T-cell proliferation, normal
immunoglobulins and antibody
MHC class
II deficiency
(MHC2TA, RFX5,
RFXANK, RFXAP),
and LCK mutation
Severe and opportunistic
infections, diarrhea,
malabsorption, failure to
thrive
↓ CD4 T cells, normal CD8 cells;
↓ T-cell proliferation,
hypogammaglobulinemia,
↓ antibody
NP Severe and opportunistic
infections, severe varicella
(including vaccine strain),
neurological impairment
↓ T cells, variable ↓ in B cells,
↓ T-cell proliferation, variable
immunoglobulins and antibody
PGM3 Recurrent infections,
skeletal dysplasia,
developmental delay
Neutropenia, lymphopenia
(↓ T and B cells), bone marrow
failure
POLE1 Mild facial dysmorphism,
livedo, short stature,
recurrent pulmonary
infection with
bronchiectasis, recurrent
Streptococcus pneumoniae
meningitis, long-bone
abnormalities
↓ IgM, ↓ IgG
2
,
↓ isohemagglutinin,
↓ CD27
+
memory B cells, low
naïve T-cell numbers
SLC46A1 Severe opportunistic
infections, failure to
thrive (reversible with
folate administration)
Normocytic anemia,
↓ serum folate,
hypogammaglobulinemia,
↓ T-cell proliferation
Table 6. Clinical and Laboratory Manifestations of Selected
Combined Immunodeficiencies and Syndromes
(cont'd)
Gene defect(s)
or disease(s) Clinical features Laboratory features
Combined B- and T-Cell Immunodeficiencies
