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IUIS classification of combined immunodeficiencies with associated or syndromic features (category II inborn errors of immunity)

IUIS classification of combined immunodeficiencies with associated or syndromic features (category II inborn errors of immunity)
Disease Genetic defect Inheritance OMIM T cells B cells Immunoglobulin Associated features
Immunodeficiency with congenital thrombocytopenia
Wiskott-Aldrich syndrome (WAS LOF) WASP actin nucleation promoting factor (WAS) XL 300392 Progressive decrease in numbers; abnormal lymphocyte responses to anti-CD3 Normal numbers Low IgM and antibody responses to polysaccharides; often high IgA and IgE Thrombocytopenia with small platelets, eczema, recurrent bacterial/viral infections, blood diarrhea, lymphoma, autoimmune disease IgA nephropathy; patients with XL thrombocytopenia have later onset of complications and more favorable life expectancy but eventually develop similar complications as observed in WAS
WIP deficiency WAS/WASL interacting protein family member 1 (WIPF1) AR 602357 Reduced, defective lymphocyte responses to anti-CD3 Normal or low Normal, except for high IgE Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent
Arp2/3-mediated filament branching defect Actin-related protein 2/3 complex subunit 1B (ARPC1B) AR 604223 Normal Normal numbers Normal, except for high IgA and IgE Mild thrombocytopenia with normal-sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3 filament branching
DNA repair defects other than those classified as category I IEI
Ataxia-telangiectasia ATM serine/threonine kinase (ATM) AR 607585 Progressive disease; poor proliferation to mitogens; may have low TRECs and T cells by NBS Normal Often low IgA, IgE, and IgG; increased IgM monomers; antibodies variably decreased Ataxia; telangiectasia, especially of sclerae; pulmonary infections; lymphoreticular and other malignancies; increased alpha fetoprotein; increased radiosensitivity, chromosomal instability, and chromosomal translocations
Nijmegen breakage syndrome Nibrin (NBN) AR 602667 Progressive disease; may have low TRECs and T cells by NBS Variably reduced Often low IgA, IgE, and IgG subclasses; increased IgM; antibodies variably decreased Microcephaly, dysmorphic facies, lymphomas and solid tumors, increased radiosensitivity, chromosomal instability
Bloom syndrome BLM RecQ-like helicase (BLM) AR 604610 Normal Normal Low Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability
Immunodeficiency with centromeric instability and facial anomalies (ICF types 1, 2, 3, 4) DNA methyltransferase 3 beta (DNNMT3B) AR 602900 Decreased or normal; responses to PHA may be decreased Decreased or normal Hypogammaglobulinemia or agammaglobulinemia; variable antibody deficiency Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
Zinc finger and BTB domain containing 24 (ZBTB24) AR 614064 Decreased or normal Decreased or normal Hypogammaglobulinemia or agammaglobulinemia; variable antibody deficiency Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
Cell division cycle associated 7 (CDCA7) AR 609937 Decreased or normal; responses to PHA may be decreased Decreased or normal Hypogammaglobulinemia or agammaglobulinemia; variable antibody deficiency Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
Helicase, lymphoid specific (HELLS) AR 603946 Decreased or normal Decreased or normal Hypogammaglobulinemia or agammaglobulinemia; variable antibody deficiency Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
PMS2 deficiency Phytohemagglutinin PMS1 homolog 2, mismatch repair system component (PMS2) AR 600259 Normal Low B cells, switched and nonswitched Low IgG and IgA; high IgM; abnormal antibody responses Recurrent infections, café-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
RNF168 deficiency (radiosensitivity, immune deficiency, dysmorphic features, learning difficulties [RIDDLE] syndrome) Ring finger protein 168 (RNF168) AR 612688 Normal Normal Low IgG or IgA Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity
MCM4 deficiency Minichromosome maintenance complex component 4 (MCM4) AR 602638 Normal Normal Normal Low number and function of NK cells, viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure
X-linked reticulate pigmentary disorder (POLA1 deficiency) DNA polymerase alpha 1, catalytic subunit (POLA1) XL 301220 Not assessed Not assessed Not assessed Hyperpigmentation, characteristic facies, lung and GI involvement
Polymerase epsilon subunit 1 (POLE1) deficiency (FILS syndrome) DNA polymerase epsilon, catalytic subunit (POLE) AR 174762 Normal; decreased T cell proliferation Low memory B cells Low IgG2 and IgM; lack of antibody to polysaccharides Recurrent respiratory infections, meningitis, facial dysmorphism, livedo, short stature
Polymerase epsilon subunit 2 (POLE2) deficiency DNA polymerase epsilon 2, accessory subunit (POLE2) AR 602670 Lymphopenia; lack of TRECs at NBS; absent proliferation in response to antigens Very low Hypogammaglobulinemia Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes), hypothyroidism, facial dysmorphism
Ligase I deficiency DNA ligase 1 (LIG1) AR 126391 Lymphopenia; increased gamma-delta T cells; decreased mitogen response Normal Hypogammaglobulinemia; reduced antibody responses Recurrent bacterial and viral infections, growth retardation, sun sensitivity, radiation sensitivity, macrocytic RBCs
NSMCE3 deficiency NSE3 homolog, SMC5-SMC6 complex component (NSMCE3) AR 608243 Decreased number; poor responses to mitogens an antigens Normal Normal IgG and IgA; normal to elevated IgM; decreased antibody responses to polysaccharides Severe lung disease (possibly viral), thymic hypoplasia, chromosomal breakage, radiation sensitivity
ERCC6L2 (Hebo) deficiency ERCC excision repair 6-like 2 (ERCC6L2) AR 615667 Lymphopenia Low Normal Facial dysmorphism, microcephaly, bone marrow failure
GINS1 deficiency GINS complex subunit 1 (GINS1) AR 610608 Low or normal Low or normal High IgA; low IgM and IgG Neutropenia, IUGR, NK cells very low
MCM10 deficiency Minichromosome maintenance 10 replication initiation factor (MCM10) AR 619313 Low or normal Low Normal IgM and IgA; decreased IgG Severe (fatal) CMV infection, HLH-like, phenocopies GINS1 and MCM4 deficiencies, low NK cells and NK function
Thymic defects with additional congenital anomalies
DiGeorge/velocardiofacial syndrome chromosome 22q11.2 deletion syndrome (22q11.2DS) Large deletion (3 Mb), typically in chromosome 22 (T-box transcription factor 1 [TBX1]) AD 602054 Decreased or normal; 5% have low TRECs at NBS and >1500 CD3T cells/uL in neonatal period Normal Normal or decreased Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability
DiGeorge/velocardiofacial syndrome Unknown Sporadic   Decreased or normal Normal Normal or decreased Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability
TBX1 deficiency T-box transcription factor 1 (TBX1) AD 602054 Decreased or normal; may have low TRECs at NBS Normal Normal or decreased Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability
CHARGE syndrome Chromodomain helicase DNA binding protein 7 (CHD7) AD 608892 Decreased or normal; may have low TRECs at NBS; response to PHA may be decreased Normal Normal or decreased Colomba of eye, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like
Semaphorin 3E (SEMA3E) AD 608166 Decreased or normal; may have low TRECs at NBS; response to PHA may be decreased Normal Normal or decreased Colomba of eye, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like
Unknown     Decreased or normal; may have low TRECs at NBS; response to PHA may be decreased Normal Normal or decreased Colomba of eye, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like
Winged helix nude FOXN1 deficiency Forkhead box N1 (FOXN1) AR 601705 Very low Normal Decreased Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect
FOXN1 haploinsufficiency Forkhead box N1 (FOXN1) AD 600838 Severe T cell lymphopenia at birth, normalized by adulthood Normal/low Not assessed Recurrent viral and bacterial respiratory tract infections, skin involvement (eczema, dermatitis), nail dystrophy
Chromosome 10p13-p14 deletion syndrome (10p13-p14DS) Del10p13-p14 AD 601362 Normal; rarely, lymphopenia and decreased lymphoproliferation to mitogens an antigens; hypoplastic thymus may be present Normal Normal Hypoparathyroidism, kidney disease, deafness, growth retardation, facial dysmorphism, cardiac defects may be present, recurrent infections may be present
Chromosome 11q deletion syndrome (Jacobsen syndrome) 11q23del AD 147791 Lymphopenia; low NK cells Decreased B cells and switched memory B cells Hypogammaglobulinemia; decreased antibody responses Recurrent respiratory infections, multiple warts, facial dysmorphism, growth retardation
Immunoosseous dysplasias
Cartilage-hair hypoplasia (CHH) RNA component of mitochondrial RNA processing endoribonuclease (RMRP) AR 157660 Varies from severely decreased (SCID) to normal; impaired lymphocyte proliferation Normal Normal or reduced; antibodies variably decreased Short-limed dwarfism with metaphyseal dysostosis, sparse hair, one marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
Schimke immunoosseous dysplasia SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) AR 606622 Decreased Normal Normal Short stature; spondyloepiphyseal dysplasia; IUGR; nephropathy; bacterial, viral, and fungal infections; may present as SCID; bone marrow failure
MYSM1 deficiency Myb-like, SWIRM and MPN domains 1 (MYSM1) AR 612176 T cell lymphopenia; reduced naïve T cells; low NK cells B cell deficiency Hypogammaglobulinemia Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B cells and granulocytes, skeletal anomalies, cataracts, developmental delay
MOPD1 deficiency (Roifman syndrome) RNA, U4atac small nuclear (RNU4ATAC) AR 601428 Decreased NK cell function Decreased total and memory B cells Hypogammaglobulinemia; variably decreased specific antibodies Recurrent bacterial infections, lymphadenopathy, spondyloepiphyseal dysplasia, extreme IUGR, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature
Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3 deficiency) Exostosin-like glycosyltransferase 3 (EXTL3) AR 617425 Decreased Normal Decreased to normal Short stature, cervical spinal stenosis, neurodevelopmental impairment, eosinophilia, may have early infant mortality
Hyper-IgE syndromes (HIES)
AD-HIES STAT3 deficiency (Job syndrome) Signal transducer and activator of transcription 3 (STAT3) AD LOF (DN) 147060 Normal overall; Th17, T follicular helper, MAIT, NKT cells decreased; Tregs may be increased; impaired responses to STAT3-activating cytokines Normal; reduced memory B cells; BAFF expression increased; impaired response to STAT3-activating cytokines Very high IgE; specific antibody production decreased Distinctive facial features (broad nasal bridge); bacterial infections (boils, pulmonary abscesses, pneumatoceles) due to Staphylococcus aureus, pulmonary Aspergillus, Pneumocystis jirovecii; eczema; mucocutaneous candidiasis; hyperextensible joins; osteoporosis and bone fractures; scoliosis; retained primary teeth; coronary and cerebral aneurysms
IL-6 receptor deficiency IL-6 receptor (IL6R) AR 147880 Normal/increased; normal responses to mitogens Normal total memory B; reduced switched memory B Normal/low serum IgM, IgG, and IgA; very high IgE; specific antibody production low Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels
IL-6 signal transducer (IL6ST) deficiency (partial) IL-6 cytokine family signal transducer (IL6ST) AR 618523 Decreased Th17 cells Reduced switched and nonswitched memory B cells High IgE; specific antibody production variably affected Bacterial infections, boils, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retained primary teeth, craniosynostosis
AD 619752 Normal; increased naïve; increased Th2 Normal total but reduced memory Normal IgM, IgG, and IgA; hyper-IgE Dermatitis/eczema, eosinophilia, recurrent skin infections, pneumonia, bronchiectasis, pneumatoceles with severe secondary pulmonary aspergillosis, connective tissue defects (scoliosis, face, joins, fractures, palate, tooth retention), phenocopies aspects of IL-6R and IL-11R deficiencies (due to unresponsiveness to these cytokines) as well as STAT3 DN/AR ZNF341
IL6ST deficiency (complete) IL-6 cytokine family signal transducer (IL6ST) AR 619751 No data; death in utero or in neonatal period occurred for most affected individuals Fatal Stuve-Wiedemann-like syndrome, skeletal dysplasia, osteoporosis, hyperextensibility, lung dysfunction, kidney abnormalities, thrombocytopenia, dermatitis, eczema, defective acute-phase response, completely unresponsive to IL-6 family cytokines
ZNF341 deficiency (AR-HIES) Zinc finger protein 341 (ZNF341) AR 618282 Decreased Th17 and NK cells Normal; reduced memory B cells; impaired response to STAT3-activating cytokines High IgE and IgG; specific antibody production decreased Phenocopy of AD-HIES, mild facial dysmorphism, early-onset eczema, mucocutaneous candidiasis, bacterial skin infections, abscesses, recurrent bacterial respiratory infections (S. aureus), lung abscesses and pneumatoceles, hyperextensible joints, bone fractures and retained primary teeth
ERBIN deficiency Erbb2-interacting protein (ERBIN) AD 606944 Increased circulating Treg Normal Moderately increased IgE Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilation in some patients
Loeys-Dietz syndrome (TGFBR deficiency) Transforming growth factor beta receptor 1 (TGFBR1) AD 609192 Normal Normal Elevated IgE Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retained primary teeth, aortic aneurysms
Transforming growth factor beta receptor 2 (TGFBR2) AD 610168 Normal Normal Elevated IgE Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retained primary teeth, aortic aneurysms
Comel-Netherton syndrome Serine peptidase inhibitor Kazal type 5 (SPINK5) AR 605010 Normal Low switched and nonswitched B cells High IgE and IgA; antibody variably decreased Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive
PGM3 deficiency Phosphoglucomutase 3 (PGM3) AR 172100 CD8 and CD4 T cells may be decreased Low B and memory B cells Normal or elevated IgG and IgA; most with high IgE; eosinophilia Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies/dysplasia, short stature, brachydactyly, dysmorphic facial features, intellectual disability and cognitive impairment, delayed CNS myelination in some affected individuals
CARD11 deficiency (heterozygous DN) Caspase recruitment domain family member 11 (CARD11) AD LOF 617638 Normal overall but defective T cell activation and proliferation; skewing toward Th2 Normal to low High IgE; poor specific antibody production; impaired activation of both NFkB and mTORC1 pathways Variable atopy, eczema, food allergies, eosinophilia; cutaneous viral infections; recurrent respiratory infections; lymphoma; CID
Defects of vitamin B12 and folate metabolism
Transcobalamin 2 deficiency Transcobalamin 2 (TCN2) AR 613441 Normal Variable Decreased Megaloblastic anemia; pancytopenia; if untreated (B12) for prolonged periods, results in intellectual disability
SLC46A1/PCFT deficiency causing hereditary folate malabsorption Solute carrier family 46 member 1 (SLC46A1) AR 229050 Variable numbers and activation profile Variable Decreased Megaloblastic anemia; failure to thrive; if untreated for prolonged periods, results in intellectual disability
MTHFD1 deficiency Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) AR 172460 Low thymic output; normal in vitro proliferation Low Decreased/poor antibody responses to conjugated polysaccharide antigens Recurrent bacterial infection, P. jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate responsive
Anhidrotic ectodermodysplasia with immunodeficiency (EDA-ID)
EDA-ID due to NEMO/IKBKG efficiency (ectodermal dysplasia, immune deficiency) Inhibitor of NFkB kinase regulatory subunit gamma (IKBKG) XL 300248 Normal or decreased; TCR activation impaired Normal; low memory and isotype switched B cells Decreased; some with elevated IgA and IgM; poor specific antibody responses; absent antibodies to polysaccharide antigens EDA (in some); various infections (bacteria, mycobacteria, viruses, fungi); colitis; conical teeth; variable defects of skin, hair, and teeth; monocyte dysfunction
EDA-ID due to IKBA GOF mutation NFkB inhibitor alpha (NFKBIA) AD GOF 164008 Normal total T cells; TCR activation impaired Normal B cell numbers; impaired BCR activation; low memory an isotype switched B cells Decreased IgG and IgA; elevated IgM; poor specific antibody responses; absent antibodies to polysaccharide antigens EDA; various infections (bacteria, mycobacteria, viruses, fungi); colitis; variable defects of skin, hair, and teeth; T cell and monocyte dysfunction
EDA-ID due to IKBKB GOF mutation Inhibitor of NFkB kinase subunit beta (IKBKB) AD GOF 618204 Decreased T cells; impaired TCR activation Normal number; poor function Reduced Recurrent bacterial, viral, and fungal infections; variable ectodermal defects
Calcium channel defects
ORAI-1 deficiency ORAI calcium release-activated calcium modulator 1 (ORAI1) AR 610277 Normal; defective TCR-mediated activation Normal Normal Autoimmunity, EDA, nonprogressive myopathy
STIM1 deficiency Stromal interaction molecule 1 (STIM1) AR 605921 Normal; defective TCR-mediated activation Normal Normal Autoimmunity, EDA, nonprogressive myopathy
CRACR2A Calcium release-activated channel regulator 2A (CRACR2A) AR   Mild reduction in T cell numbers Normal Low Later onset; chronic diarrhea; recurrent lower respiratory tract infections, including pneumonia
Other
PNP deficiency Purine nucleoside phosphorylase (PNP) AR 164050 Progressive decrease Normal Normal or low Autoimmune hemolytic anemia, neurologic impairment
Immunodeficiency with multiple intestinal atresias Tetratricopeptide repeat domain 7A (TTC7A) AR 609332 Variable, but some times absent or low TRECs at NBS; may have SCID phenotype at birth Normal or low Markedly decreased IgG, IgM, and IgA Bacterial (sepsis), fungal, and viral infections; multiple intestinal atresias, often with intrauterine polyhydramnios and early demise
Tricho-hepato-enteric syndrome (THES) SKI3 subunit of superkiller complex (SKIC3) AR 222470 Impaired IFN-gamma production Variably low numbers of switched memory B cells Hypogammaglobulinemia; may have low antibody responses Respiratory infections, IUGR, facial dysmorphic features, wool hair, earl-onset intractable diarrhea, liver cirrhosis, platelet abnormalities
SKI2 subunit of superkiller complex (SKIC2) AR 614602 Impaired IFN-gamma production Variably low numbers of switched B cells Hypogammaglobulinemia; may have low antibody responses Respiratory infections, IUGR, facial dysmorphic features, wool hair, earl-onset intractable diarrhea, liver cirrhosis, platelet abnormalities
Hepatic veno-occlusive disease with immunodeficiency (VODI) SP110 nuclear body protein (SP110) AR 604457 Normal; decreased memory T cells Normal; decreased memory B cells Decreased IgG, IgA, and IgM; absent germinal enters and tissue plasma cells Hepatic veno-occlusive disease; susceptibility to P. jirovecii pneumonia, CMV, and Candida; thrombocytopenia; hepatosplenomegaly; cerebrospinal leukodystrophy
BCL11B deficiency BAF chromatin remodeling complex subunit BCL11B (BCL11B) AD 617237 Low; poor proliferation Normal Normal Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits
EPG5 deficiency (Vici syndrome) Ectopic P-granules 5 autophagy tethering factor (EPG5) AR 615068 Profound depletion of CD4+ cells Defective Decreased (particularly IgG2) Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis
HOIL1 deficiency RANBP2-type and C3HC4-type zinc finger containing 1 (RBCK1) AR 610924 Normal numbers Normal; decreased memory B cells Poor antibody responses to polysaccharides Bacterial infections, autoinflammation, amylopectinosis
HOIP deficiency Ring finger protein 31 (RNF31) AR 612487 Normal numbers Normal; decreased memory B cells Decreased Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia
Hennekam-lymphangiectasia-lymphedema syndrome Collagen and calcium binding EGF domains 1 (CCBE1) AR 612753 Low/variable Low/variable Decreased Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
FAT atypical cadherin 4 (FAT4) AR 612411 Low/variable Low/variable Decreased Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
Activating de novo mutations in nuclear factor, erythroid 2-like (NFE2L2) NFE2-like bZIP transcription factor 2 (NFE2L2) AD 617744 Not reported Decreased switched memory B cells Hypogammaglobulinemia; decreased antibody responses Recurrent respiratory and skin infections, grow retardation, developmental delay, white matter cerebral lesions, increased level of homocysteine, increased expression of stress-response genes
STAT5b deficiency Signal transducer and activator of transcription 5B (STAT5B) AR 245590 Modestly decreased; reduced Treg number and function Normal Hypergammaglobulinemia; increased IgE Growth hormone-insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, prominent autoimmunity
AD (DN) 604260 Normal Normal Increased IgE Growth failure, eczema, no immune defects compared with AR STAT5 deficiency
Kabuki syndrome (types 1 and 2) Lysine methyltransferase 2D (KMT2D) AD 602113 Normal Normal Low IgA and occasionally low IgG Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients, autoimmunity may be present
Lysine demethylase 6A (KDM6A) XL (females may be affected) 300128 Normal Normal Low IgA and occasionally low IgG Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients, autoimmunity may be present
KMT2A deficiency (Wiedemann-Steiner syndrome) Lysine methyltransferase 2A (KMT2A) AD 605130 Normal Decreased switched and nonswitched memory B cells Hypogammaglobulinemia; decreased antibody responses Respiratory infections, short stature, hypertelorism, hair elbows, developmental delay, intellectual disability
DIAPH1 deficiency Diaphanous-related formin 1 (DIAPH1) AR 616632 Reduced naïve T cells Decreased memory B cells Low IgM; normal IgG SCBMS; recurrent bacterial, viral, and fungal infections; B lymphoma (3 of 7 patients)
AIOLOS deficiency IKAROS family zinc finger 3 (IKZF3) AD 619437 Normal Reduced; impaired development Very low EBV susceptibility, recurrent sinopulmonary an respiratory infections, P. jirovecii, warts (HPV), Mycobacterium avium, B cell malignancy
CD28 deficiency CD28 molecule (CD28) AR   Normal Normal Normal Susceptibility to HPV infection only
Total number of mutant genes in table: 69.
IUIS: International Union of Immunological Societies; LOF: loss of function; XL: X linked; CD: cluster of differentiation; IgM: immunoglobulin M; IgA: immunoglobulin A; IgE: immunoglobulin E; WIP: WASP interacting protein; AR: autosomal recessive; ANA: antinuclear antibody; ANCA: antineutrophil cytoplasmic antibody; DNA: deoxyribonucleic acid; IEI: inborn errors of immunity; TREC: T cell receptor excision circle; NBS: newborn screening; IgG: immunoglobulin G; PHA: phytohemagglutinin; NK: natural killer; EBV: Epstein-Barr virus; HSV: herpes simplex virus; VZV: varicella-zoster virus; GI: gastrointestinal; FILS: facial dysmorphism, immunodeficiency, livedo, and short stature; BCG: Bacillus Calmette-Guérin; RBC: red blood cell; IUGR: intrauterine growth restriction; CMV: cytomegalovirus; HLH: hemophagocytic lymphohistiocytosis; AD: autosomal dominant; CHARGE: coloboma of the eye, heart anomalies, choanal atresia, retardation, genital and ear anomalies; CNS: central nervous system; SCID: severe combined immunodeficiency; RNA: ribonucleic acid; MOPD1: microcephalic osteodysplastic primordial dwarfism type 1; STAT: signal transducer and activator of transcription; DN: dominant negative; Th17: T helper type 17; MAIT: mucosal-associated invariant T; NKT: natural killer T; Treg: regulatory T cells; BAFF: B cell activating factor; IL: interleukin; Th2: T helper type 2; NFkB: nuclear factor kappa B; mTORC1: mechanistic (mammalian) target of rapamycin complex 1; PCFT: proton-coupled folate transporter; EDA: anhidrotic ectodermodysplasia; NEMO: NFkB essential modulator; TCR: T cell receptor; IKBA: I-kappa-B alpha; GOF: gain of function; BCR: B cell receptor; IFN: interferon; HOIL1: heme-oxidized IRP2 ubiquitin ligase 1; HOIP: HOIL-1-interacting protein; SCBMS: seizures, cortical blindness, microcephaly syndrome; HPV: human papillomavirus.
From: Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; 42:1473. Copyright © 2022 The Authors. Reproduced under the terms of the Creative Commons Attribution License 4.0.
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