Patient no
|
Clinical diagnosis
(IUIS classification)
|
Gene
|
Variant
|
Associated features
|
P1
|
Innate immune defect
|
CARD9
|
c.883C>T p.Gln295Ter
|
Invasive fungal infection, HSM, dermatitis, elevated IgG and IgE
|
P2
|
CID
|
RFXANK
|
c.634C>T p.Arg212Ter
|
Failure to thrive, respiratory and gastrointestinal infections, low CD4+ T cells
|
P3
|
SCID
|
CD3E
|
c.176G>A p.Trp59Ter
|
T - B+ NK+
|
P4
|
CID
|
NFATC2
|
c.340_345delGAGATC p.Glu114_Ile115del
|
EBV-associated lymphoproliferation, recurrent pulmonary infections,
hypogammaglobulinemia
|
P5
|
SCID
|
JAK3
|
c.2134G>A p.Gly712Ser
|
T - B+ NK+
|
P6
|
SCID
|
RAG2
|
c.581C>A p.Ser194Ter
|
T - B- NK+
|
P7
|
SCID
|
RAG1
|
c.2005G>A p.Glu669Lys c.1307C>A p.Thr436Asn
|
T - B- NK+
|
P8
|
SCID
|
RAG1
|
c.2005G>A p.Glu669Lys c.1307C>A p.Thr436Asn
|
T - B- NK+
|
P9
|
PIRD
|
CD70
|
c.332C>T p.Thr111Met
|
Burkitt lymphoma, hypogammaglobulinemia, reduced memory B cells
|
P10
|
PIRD
|
CD70
|
c.332C>T p.Thr111Met
|
Recurrent pulmonary infection, non-Hodgkin lymphoma, hypogammaglobulinemia
|
P11
|
Phagocyte defect
|
CYBA
|
c.58+4_58+7delAGTG
|
Pulmonary Aspergillus infections
|
P12
|
CID
|
ZNF341
|
c.1626C>G p.Tyr542Ter
|
Early onset eczema, recurrent skin and pulmonary infections, eosinophilia, elevated IgE
|
P13
|
CID
|
ZAP70
|
c.1010T>G p.Leu337Ala
|
CMV infection, chronic diarrhea, recurrent bacterial infections, low CD8+ T cells
|
P14
|
SCID
|
RAG2
|
c.105G>C p.Gly35Ala
|
T - B- NK+
|
P15
|
SCID
|
RAG2
|
c.105G>C p.Gly35Ala
|
T - B- NK+
|
P16
|
PAD/CVID
|
TNFRSF13B
|
c.T310C p.Cys104Arg
|
Recurrent pulmonary infections, ITP, panhypogammaglobulinemia, reduced switched memory B cells
|
P17
|
PAD/CVID
|
PIK3R1
|
c.837-1G>A
|
Recurrent pulmonary infections, septic arthritis, agammaglobulinemia
|
P18
|
CID
|
PGM3
|
c.G214A p.Gly72Ser
|
Severe atopy, bacterial and viral infections, scoliosis, achondroplasia, dysgerminoma, reduced B and memory B cells, elevated IgE
|
P19
|
Other
|
SAMD9L
|
c.A2639C p.His880Pro
|
Aplastic anemia, recurrent bacterial infections, agammaglobulinemia, reduced NK cells
|
P20
|
PAD/CVID
|
TNFRSF13B
|
c.204dupA p.Leu69Tfs*11
|
Lichen planus, panhypogammaglobulinemia
|
P21
|
PAD/CVID
|
CD79A
|
c.380-2A>G
|
IBD, agammaglobulinemia
|
P22
|
CID
|
DNMT3B
|
c.G2029A p.Val677Met
|
Recurrent pulmonary infections, osteoporosis, agammaglobulinemia, reduced T and B cells
|
P23
|
PAD/CVID
|
AICDA
|
c.A100T p.Lys34Ter
|
Rheumatoid arthritis, bacterial infections, elevated IgM
|
P24
|
Phagocyte defect
|
CYBA
|
c.G70A p.Gly24Arg
|
BCGitis, anal abscess
|
P25
|
CID
|
MALT1
|
c.1318_1321delTGTC p.L440Valfs*6
|
Bacterial, viral, fungal infections
|
P26
|
Phagocyte defect
|
SBDS
|
c.T578C p.Lys193Pro
c.A184T p.Lys62Ter
|
Recurrent sinopulmonary infections, gingivitis, neutropenia
|
P27
|
CID
|
RFXANK
|
Exon 2-6 Deletion
|
Failure to thrive, recurrent sinopulmonary and gastrointestinal infections, warts, low CD4+ T cells
|
P28
|
PIRD
|
MAGT1
|
c.199-16A>G
|
EBV infection, lymphoma
|
P29
|
SCID
|
ADA
|
c.551_555del p.Glu184Glyfs*2 c.G241A p.Gly81Arg
|
T - B- NK+
|
P30
|
SCID
|
RAG1
|
c.C1767G p.Tyr589Ter
|
T - B- NK+
|
P31
|
SCID
|
JAK3
|
c.932delC p.Pro311Argfs*17
|
T - B+ NK-
|
P32
|
Innate immune defect
|
TRAF3IP2
|
c.C559T p.Arg187Ter
|
CMC, alopecia areata
|
P33
|
SCID
|
RAG1
|
c.G2126A p.Gly709Asp
|
T - B- NK+
|
P34
|
SCID
|
ADA
|
c.A779G p.Glu260Gly
|
T - B- NK+
|
P35
|
Phagocyte defect
|
NCF2
|
c.G233A p.Gly78Glu
|
Recurrent infections, aphthous stomatitis, cervical lymphadenitis
|
P36
|
Phagocyte defect
|
CYBA
|
c.166dupC p.Arg56Profs*156
|
Recurrent infections, cervical lymphadenitis
|
P37
|
PIRD
|
LRBA
|
c.646-1G>A
|
AIHA, HSM, hypogammaglobulinemia
|
P38
|
SCID
|
JAK3
|
c.G2080T p.Glu694Ter
|
T - B+ NK-
|
P39
|
SCID
|
IL2RG
|
c.437T>A p.Leu146Gln
|
T - B+ NK-
|
P40
|
PIRD
|
PRKCD
|
c.1097G>A p.Gly366Glu
|
BCGosis, meningitis, lymphoproliferation
|
P41
|
SCID
|
RAG2
|
c.623T>A p.Val208Asp
|
T - B- NK+
|
P42
|
PIRD
|
CTLA4
|
c.118G>A p.Val40Met
|
AIHA, enteropathy, reduced T and B cells
|
P43
|
PIRD
|
JAK1
|
c.2485A>G p.Asn829Asp
|
IBD, lymphopenia, vitiligo
|
P44
|
SCID
|
RAG1
|
c.C1767G p.Tyr589Ter
|
T - B- NK+
|
P45
|
PIRD
|
PRKCD
|
c.1097G>A p.Gly366Glu
|
SLE, hypogammaglobulinemia
|
P46
|
Phagocyte defect
|
CYBB
|
c.770G>A p.Cys257Tyr
|
Lymphoproliferation, granulomatous hepatitis, cytopenia
|
P47
|
CID
|
CHUK
|
c.499G>A p.Gly167Arg
|
Recurrent bacterial, viral, fungal infections, chronic diarrhea, failure to thrive, hepatic fibrosis, absent secondary lymphoid tissues, hypogammaglobulinemia, reduced switched memory B cells
|
P48
|
CID
|
CHUK
|
c.499G>A p.Gly167Arg
|
Recurrent bacterial, viral, fungal infections, chronic diarrhea, failure to thrive, absent secondary lymphoid tissues, hypogammaglobulinemia, reduced switched memory B cells
|
P49
|
SCID
|
RAG1
|
c.742C>T p.Gln248Ter
|
T - B- NK+
|
P50
|
CID
|
CD40L
|
c.15C>A p.Tyr5Ter
|
Recurrent sinopulmonary infections, hypereosinophilia, eosinophilic gastroenteritis, memory B cells absent
|
P51
|
PIRD
|
UNC13D
|
c.2346_2349delGGAG p.Arg782SerfsTer12
|
HLH, pancytopenia, reduced naive T and RTE cells
|
P52
|
PAD/CVID
|
IGGL1
|
c.425C>T p.Pro142Leu
|
Recurrent bacterial, viral, fungal infections, panhypogammaglobulinemia
|
P53
|
Phagocyte defect
|
ELANE
|
c.703delG p.Val235TrpfsTer5
|
Recurrent bacterial infections, severe congenital neutropenia
|
P54
|
Autoinflammatory disorder
|
HCK
|
c.135_136delinsTG p.Pro46Ala
|
Nodulocystic acnes, cutaneous vasculitis, HSM
|
P55
|
Phagocyte defect
|
CYBA
|
c.385G>A p.Glu129Lys
|
Lung granulomas, chronic diarrhea
|
P56
|
PIRD
|
SLC7A7
|
c.1417C>T p.Arg473Ter
|
Mental motor retardation, failure to thrive, skeletal anomalies, acanthosis nigricans, AIHA, lymphopenia
|
P57
|
Phagocyte defect
|
NCF2
|
c.196C>T p.Arg66Ter
|
Recurrent bacterial, fungal infections, lung granulomas
|
P58
|
SCID
|
DCLRE1C
|
c.1633delT p.Glu545AsnfsTer
|
T - B- NK+
|
P59
|
SCID
|
RAG1
|
c.712delC p.Val238LeufsTer10
|
T - B- NK+
|
P60
|
Innate immune defect
|
IL12RB1
|
c.523C>T p.Arg175Trp
|
BCGitis,
|
P61
|
CID
|
CD40L
|
c.15C>A p.Tyr5Ter
|
Asymptomatic, reduced switched memory B cells
|
P62
|
Autoinflammatory disorder
|
ADA2
|
c.1072G>A p.Gly358Arg
|
Recurrent pulmonary infections, reduced switched memory B and marginal zone B cells
|
P63
|
Innate immune defect
|
IL12RB1
|
c.1456C>T p.Arg486Ter
|
BCGitis
|
P64
|
CID
|
CHUK
|
c.499G>A p.Gly167Arg
|
Recurrent pulmonary infection, absent secondary lymphoid tissues, hypogammaglobulinemia, reduced switched memory B cells
|
P65
|
Phagocyte defect
|
CYBA
|
c.371C>T p.Ala124Val
|
Recurrent sinopulmonary infections, recurrent fungal infections, deafness
|
P66
|
CID
|
GIMAP5
|
c.667C>T p.Leu223Phe
|
Hodgkin lymphoma
|
P67
|
CID
|
GIMAP5
|
c.667C>T p.Leu223Phe
|
Hodgkin lymphoma
|
P68
|
PAD/CVID
|
CD79A
|
c.177dup p.Asn60GlnfsTer20
|
Chronic diarrhea, elevated hepatic transaminases, failure to thrive, agammaglobulinemia
|
P69
|
PIRD
|
UNC13D
|
c.1082del p.Tyr361SerfsTer43
|
HLH, pancytopenia
|
P70
|
PIRD
|
FAS
|
c.361C>T p.Arg121Trp
|
Splenomegaly, lymphadenopathy, ITP
|
P71
|
PIRD
|
PRF1
|
c.1122G>A p.Trp374Ter
|
HLH, HSM, reduced NK cells
|
P72
|
CID
|
DOCK8
|
c.5831C>T p.Pro1944Leu
|
Human papillomavirus HPV infections, recurrent sinopulmonary and gastrointestinal infections, elevated IgE
|
P73
|
CID
|
DOCK8
|
c.5831C>T p.Pro1944Leu
|
Severe atopy/allergic disease, eosinophilia, recurrent viral infections, eosinophilic esophagitis, reduced naive CD8+ T cells
|
P74
|
PIRD
|
CTLA4
|
c.151C>T p.Arg51Ter
|
Lymphadenopathy, lymphopenia, hypogammaglobulinemia, reduced switched memory B cells
|
P75
|
Phagocyte defect
|
HAX1
|
c.130_131insA p.Trp44Ter
|
Recurrent perianal abscess, neutropenia
|
P76
|
CID
|
PIK3CG
|
c.2159A>G p.Tyr720Cys
|
Severe atopic dermatitis, multiple food allergy, eosinophilia, hypogammaglobulinemia
|
P77
|
CID
|
MALT1
|
c.1133T>G p.Phe378Cys
|
Failure to thrive, monoliazis, necrotizing skin lesions, lymphoproliferation
|
P78
|
PIRD
|
MAGT1
|
c.628-4T>C
|
Recurrent sinopulmonary infections, panhypogammaglobulinemia
|
P79
|
Autoinflammatory disorder
|
ACP5
|
c.772_790del
p.Ser258WTrpfs*39
|
B-ALL, failure to thrive, spondyloenchondrodysplasia, intracranial calcification, mild MR
|
P80
|
CID
|
PGM3
|
c.821A>G p.Asn274Ser
|
Facial dysmorphic features, pancytopenia, T cell lymphopenia, reduced T lymphocyte activation
|
P81
|
CID
|
CD3G
|
c.80-1G>C
|
Recurrent sinopulmonary infections, AIHA, panhypogammaglobulinemia, reduced memory and switched memory B cells
|
P82
|
Phagocyte defect
|
ELANE
|
c.367-8C>A
|
Early onset IBD, oral aphtosis, recurrent gastrointestinal infections, severe congenital neutropenia
|
P83
|
Phagocyte defect
|
CYBA
|
c.70G>A p.Gly24Arg c.373G>A p.Ala125Thr
|
Colitis, perianal abscess
|
P84
|
Autoinflammatory disorder
|
ADA2
|
c.319A>C p.Lys107Gln
|
EBV associated Hodgkin lymphoma
|
P85
|
PIRD
|
FAS
|
c.761T>A p.Val254Asp
|
Lymphoproliferation, elevated DNT
|
P86
|
CID
|
PNP
|
c.461+1G>A
|
Autoimmune hemolytic anemia, neurological impairment, osteomyelitis, lymphopenia
|
P87
|
PIRD
|
RAB27A
|
c.514_518del p.Gln172AsnfsTer2
|
Preseptal cellulitis, partial albinism, cytopenia
|
P88
|
CID
|
BACH2
|
c.745del p.Ser249ValfsTer93
|
IBD, pancreatitis, hypogammaglobulinemia
|
P89
|
CID
|
RNF31
|
c.2846A>C p.Asn949Thr
|
Chronic diarrhea, hypoalbunemia, lymphoplasmacytic inflammation
|
P90
|
Autoinflammatory disorder
|
ACP5
|
c.772_790del Ser258Trpfs*39
|
Recurrent viral infections, thrombocytopenia, AIHA
|
P91
|
PIRD
|
PRF1
|
c.1122G>A p.Trp374Ter
|
Sepsis, HSM, cytopenia, recurrent moniliazis, HLH
|
P92
|
Phagocyte defect
|
NCF1
|
Exon 5-6 Dup
|
Necrotizing pneumonia, lymphopenia, neutropenia
|
P93
|
CID
|
CHD7
|
c.1904A>T p.Asp635Val
|
Facial dysmorphic features, recurrent pulmonary infections, chronic severe diarrhea, reduced CD3 lymphocytes
|
P94
|
CID
|
FCHO1
|
c.2183A>C p.Asn728Thr
|
Lymphadenitis, elevated IgE, eosinophilia
|
P95
|
PIRD
|
LRBA
|
c.2836_2839del p.Glu946Ter
|
Recurrent pulmonary infections, IBD, panhypogammaglobulinemia, reduced switched memory B cells
|
P96
|
Innate immune defect
|
TBK1
|
c.1055T>C p.Leu352Pro
|
Enteroviral meningitis, recurrent sinopulmonary infections, failure to thrive
|
P97
|
SCID
|
IL7R
|
c.337G>T p.Glu113Ter
|
T- B+ NK+ SCID
|
P98
|
PIRD
|
LRBA
|
c.2836_2839del p.Glu946Ter
|
Recurrent sinopulmonary infections, CMV colitis, EBV, arthritis, deafness, hyper IgM phenotype, absent B lymphocytes
|
P99
|
SCID
|
PRKDC
|
c.9182T>G p.Leu3061Arg
|
T- B- NK+ SCID
|
P100
|
SCID
|
RAG2
|
c.104G>C p.Gly35Ala
|
T- B- NK+ SCID
|
P101
|
PAD/CVID
|
PIK3CD
|
c.1573G>A p.Glu525Lys
|
Lichen planus, fulminant hepatic failure, granuloma, ITP, lymphoproliferation, reduced switched memory B cells
|
P102
|
PIRD
|
FAS
|
c.340G>A p.Glu114Lys
|
AIHA, cytopenia, HSM, lymphoproliferation, crescentic GLN, agammaglobulinemia, elevated DNT, reduced Treg cells
|
P103
|
Innate immune defect
|
STAT1
|
c.1189A>G p.Asn3Asp
|
Recurrent pulmonary infections, bronchiectasis, CMC, nail dystrophia, severe growth retardation, hypothyroidism, hypergammaglobulinemia, CD4+ T cel lymphopenia
|
P104
|
CID
|
IL6ST
|
c.2093C>A p.Ala698Glu
|
Recurrent pulmonary infections, bronchiectasis, severe eczema, hypogammaglobulinemia, elevated IgE, lymphopenia
|
P105
|
Innate immune defect
|
IL12RB1
|
c.637C>T p.Arg213Trp
|
Severe pulmonary tuberculosis, vasculitis, recurrent arthritis
|
P106
|
CID
|
DOCK8
|
c.5766G>A p.Met1922Ile
|
Severe eczema, multiple food allergies, recurrent infections, elevated IgE, lymphopenia
|
P107
|
CID
|
DOCK8
|
Exon 1-10 Deletion
|
Recurrent infections, growth retardation, failure to thrive, food allergies, elevated IgE, hypogammaglobulinemia, lymphopenia
|
P108
|
CID
|
SPINK5
|
c.2658_2662dupGAGCA p.Ile888ArgfsTer56
|
Recurrent bacterial infections, failure to thrive, reduced memory B cells, elevated IgE,
|
P109
|
SCID
|
ADA
|
c.556G>A p.Glu186Lys
|
T- B- NK- SCID
|
P110
|
CID
|
RAG1
|
c.2095C>T p.Arg699Trp
|
T- B- NK+ SCID
|
P111
|
PIRD
|
PRF1
|
c.1267delC p.Gln423LysfsX17
|
Sepsis, pancytopenia, HLH
|
P112
|
SCID
|
IL2RG
|
c.511G>T p.Glu171Ter
|
T- B+ NK- SCID
|
P113
|
PAD/CVID
|
CASP8
|
c.919C>T p.Arg307Trp
|
Recurrent bacterial infections, HSM, hypogammaglobulinemia, low B cells, increased DNT cells
|
P114
|
CID
|
DOCK8
|
c.5831C>T p.Pro1944Leu
|
Recurrent pulmonary and cutaneous infections, bronchiectasis, T cell lymphopenia, high IgE
|
P115
|
SCID
|
ADA
|
c.556G>A p.Glu186Lys
|
T- B- NK- SCID
|
P116
|
SCID
|
RAG1
|
c.1307C>A p.Thr436Asn
|
T- B- NK+ SCID
|
P117
|
SCID
|
RAG1
|
c.2322G>A p.Arg737His
|
T- B- NK+ SCID
|
P118
|
Phagocyte defect
|
CYBA
|
c.G70A p.Gly24Arg
|
Recurrent infections, lung granulomas
|
P119
|
PIRD
|
PRF1
|
c.1385C>A p.Ser462Ter
|
Hemophagocytic lymphohistiocytosis HLH, HSM, low NK cells
|
P120
|
CID
|
WAS
|
c.37C>T p.Arg13Ter
|
Thrombocytopenia, eczema, recurrent bacterial infections, poor polysaccharide vaccine response
|
P121
|
CID
|
WAS
|
c.91G>A p.Glu31Lys
|
Thrombocytopenia, eczema, recurrent bacterial infections, low T cells
|
P122
|
PAD/CVID
|
PIK3CD
|
c.1573G>A p.Glu525Lys
|
EBV infection, lymphadenopathy, reduced IgA and IgG
|