Version November 2024
| 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 | |
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