DOCK2
|
Low
|
Normal
|
AR
|
Impaired interferon response in hematopoietic and nonhematopoietic cells; normal NK numbers but defective function
|
CD40LGb
|
Normal to low
|
sIgM+ and sIgD+ B cells present, other surface isotype positive B cells absent
|
XL
|
Neutropenia; thrombocytopenia; hemolytic anemia; liver/biliary tract disease; opportunistic infections
|
CD40b
|
Normal
|
IgM+ and IgD+ cells present, other isotypes absent
|
AR
|
Neutropenia; GI and liver/biliary tract disease; opportunistic infections
|
ICOSb
|
Normal
|
Normal
|
AR
|
Recurrent infections; autoimmunity; gastroenteritis; granulomas in some cases
|
PNP
|
Progressive decrease
|
Normal
|
AR
|
Autoimmune hemolytic anemia; neurological impairment
|
CD3G
|
Normal number; low TCR expression
|
Normal
|
AR
|
—
|
CD8A
|
Absent CD8, normal CD4 cells
|
Normal
|
AR
|
Recurrent infections; may be asymptomatic
|
ZAP70
|
Low CD8, normal CD4 cells
|
Normal
|
AR
|
In some cases, immune dysregulation, autoimmunity
|
TAP1, TAP2, or TAPBP
|
Low CD8, normal CD4 cells
|
Normal
|
AR
|
Vasculitis; pyoderma gangrenosum
|
B2M
|
—
|
Normal
|
AR
|
—
|
CIITA, RFXANK, RFX5, RFXAP
|
Low CD4 cells
|
Normal
|
AR
|
Respiratory and GI infections; liver/biliary tract disease
|
ITK
|
Progressive decrease
|
Normal
|
AR
|
EBV-associated B-cell lymphoproliferation, lymphoma; normal or low IgG
|
MAGT1
|
Low CD4 cells
|
Normal
|
XL
|
EBV infection; lymphoma; viral infections; respiratory and GI infections
|
DOCK8
|
Low
|
Low; low CD27+ memory B cells
|
AR
|
Eosinophilia; recurrent infections; severe atopy; cutaneous viral, staphylococcal, and fungal infections; cancer susceptibility; low/impaired function NK cells
|
RHOH
|
Normal number
|
Normal
|
AR
|
HPV infection; lymphoma; lung granulomas; molluscum contagiosum
|
SH2D1Ab
|
Normal or increased activated T cells
|
Reduced memory B cells
|
XL
|
Clinical and immunologic features induced by EBV infection; HLH; lymphoproliferation; aplastic anemia; lymphoma; hypogammaglobulinemia
|
RMRP
|
Varies from severely low to normal; impaired lymphocyte proliferation
|
Normal
|
AR
|
Short-limbed dwarfism with metaphyseal dysostosis; sparse hair; bone marrow failure; autoimmunity; cancer/lymphoma susceptibility; impaired spermatogenesis; neuronal dysplasia of the intestine
|
STK4
|
Low
|
Low
|
AR
|
Recurrent bacterial, viral/HPV, and candidal infections; intermittent neutropenia; EBV lymphoproliferation; lymphoma; congenital heart disease; autoimmune cytopenias
|
TRAC
|
Absent TCR alpha beta cells
|
Normal
|
AR
|
Recurrent viral, bacterial, and fungal infections; immune dysregulation autoimmunity; diarrhea
|
LCK
|
Low CD4+ and T regulatory cells
|
Normal
|
AR
|
Recurrent infections; immune dysregulation; autoimmunity
|
MALT1b
|
Normal number
|
Normal
|
AR
|
Bacterial, fungal, and viral infections
|
CARD11b
|
Normal number
|
Normal predominance of transitional B cells
|
AD, AR
|
Pneumocystis jirovecii pneumonia, bacterial and viral infections
|
BCL10
|
Normal number
|
Normal number
|
AR
|
Recurrent bacterial and viral infections; candidiasis; gastroenteritis
|
BCL11B
|
Low
|
Normal
|
AD
|
Congenital abnormalities, neonatal teeth, facies abnormalities, absent corpus callosum, neurocognitive defects
|
IL21b
|
Normal number
|
Low
|
AR
|
Severe onset early colitis; sinopulmonary infections
|
IL21Rb
|
Normal number
|
Normal number
|
AD, AR
|
Recurrent infections; susceptibility to cryptosporidium and pneumocystis infections and liver disease
|
TNFRSF4
|
Normal number
|
Normal number
|
AR
|
Kaposi sarcoma; impaired immunity to HHV8
|
IKBKB
|
Normal number
|
Normal number
|
AR
|
Recurrent bacterial, viral, and fungal infections; opportunistic infections
|
PIK3CDb
|
—
|
Low or absent pro-B cells
|
AD
|
Severe bacterial infections; EBV
|
LRBAb
|
Normal/decreased CD4 number
|
Low or normal number
|
AR
|
Recurrent infections; IBD; autoimmunity; EBV infection
|
CD27b
|
Normal
|
No memory B cells
|
AR
|
Clinical and immunologic features triggered by EBV infection; HLH; aplastic anemia; lymphoma; hypogammaglobulinemia; low iNKT cells
|
RELB
|
Normal number
|
—
|
AR
|
Recurrent infections
|
MSN
|
Normal number
|
Low number
|
XL
|
Recurrent infections with bacteria, varicella, neutropenia
|
TFRC
|
Normal number
|
Normal number, low memory B cells
|
AR
|
Recurrent infections, neutropenia, thrombocytopenia
|
MAP3K14b
|
Normal number
|
Low
|
AR
|
Recurrent bacterial, viral, and Cryptosporidium infections; low NK cell number
|
CTPS1
|
Normal or decreased
|
Normal or decreased
|
AR
|
Recurrent/chronic viral infections (particularly EBV, VZV), lymphoproliferation; B-cell NHL
|