Condition report · Immunological

Primary Immunodeficiency

Whole genome sequencing evaluates all 450+ primary immunodeficiency genes simultaneously, from SCID (a neonatal emergency) to CVID (the most common symptomatic PID in adults), providing the molecular diagnosis that determines curative vs. supportive therapy.

A condition report looks for rare variants known to cause the conditions it covers.

Included with every kit

About this condition

Other Inborn Errors of Immunity

Inherited conditions that weaken or misdirect the immune system, leading to frequent, severe or unusual infections, autoimmunity or inflammation. This report covers inborn errors of immunity that do not have their own dedicated report. Separate reports cover severe combined immunodeficiency, agammaglobulinaemia, common variable immunodeficiency, hyper-IgM syndromes, activated PI3K-delta syndrome, Wiskott-Aldrich syndrome, IPEX and other Tregopathies, ALPS, X-linked lymphoproliferative disease, ataxia-telangiectasia, MSMD, STAT1 and STAT3 gain-of-function, hyper-IgE syndrome, chronic granulomatous disease, leukocyte adhesion deficiency, complement deficiencies, familial HLH and other named immune conditions.

Primary immunodeficiency disorders (PIDs, also called inborn errors of immunity) encompass over 450 genetically defined conditions affecting the development and/or function of the immune system. The International Union of Immunological Societies (IUIS) classifies PIDs into 10 categories including combined immunodeficiencies (SCID), predominantly antibody deficiencies (CVID, XLA), phagocyte defects (CGD), complement deficiencies, and autoinflammatory conditions. PID prevalence is estimated at 1 in 1,200, dramatically higher than previously appreciated, with the majority undiagnosed.

Severe combined immunodeficiency (SCID) is a neonatal emergency caused by variants in IL2RG (X-linked, most common), ADA, JAK3, RAG1/RAG2, IL7R, and others. Affected infants have virtually no functional T cells and die of opportunistic infection within the first year of life without definitive treatment. Newborn SCID screening (via TREC assay) is now performed in all US states, identifying affected infants before the first infection. Hematopoietic stem cell transplantation (HSCT) before 3.5 months of age without prior infection produces >95% survival, making SCID a paradigm of presymptomatic treatment success.

Beyond SCID, the PID spectrum includes common variable immunodeficiency (CVID, the most common symptomatic PID in adults, affecting ~1 in 25,000), X-linked agammaglobulinemia (XLA, BTK), chronic granulomatous disease (CGD, CYBB), and hundreds of rarer conditions. Targeted therapies are emerging: leniolisib (FDA 2023) for activated PI3Kδ syndrome (APDS), gene therapy for ADA-SCID and X-linked SCID, and JAK inhibitors for specific PID subtypes. Molecular diagnosis is required for all targeted therapies and is essential for HSCT donor selection and conditioning regimen planning.

Leniolisib (Joenja, FDA 2023) is the first targeted therapy for activated PI3Kδ syndrome (APDS), caused by PIK3CD or PIK3R1 gain-of-function variants. Molecular confirmation is required for prescribing. WGS identifies all APDS variants.

What your report covers

Immunodeficiency Disease

Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

What a diagnosis changes

HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Also known as

immuno-deficiency; immunodeficiency; immunodeficiency disorder; immunodeficiency syndrome

Includes 332 related subtypes ↓

activated PI3K-delta syndrome
agammaglobulinemia
agammaglobulinemia 10, autosomal dominant
agammaglobulinemia 2, autosomal recessive
agammaglobulinemia 3, autosomal recessive
agammaglobulinemia 4, autosomal recessive
agammaglobulinemia 5, autosomal dominant
agammaglobulinemia 6, autosomal recessive
agammaglobulinemia 7, autosomal recessive
agammaglobulinemia 8, autosomal dominant
agammaglobulinemia 8b, autosomal recessive
agammaglobulinemia 9, autosomal recessive
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
agammaglobulinemia, autosomal recessive, due to BOB1 deficiency
AIDS
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
ataxia telangiectasia
ataxia-telangiectasia with generalized skin pigmentation and early death
atypical hemolytic uremic syndrome with complement gene abnormality
atypical hemolytic-uremic syndrome
atypical hemolytic-uremic syndrome with anti-factor H antibodies
atypical hemolytic-uremic syndrome with B factor anomaly
atypical hemolytic-uremic syndrome with C3 anomaly
atypical hemolytic-uremic syndrome with DGKE deficiency
atypical hemolytic-uremic syndrome with H factor anomaly
atypical hemolytic-uremic syndrome with I factor anomaly
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
atypical hemolytic-uremic syndrome with thrombomodulin anomaly
autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
autoinflammatory disease, familial, Behcet-like-3
autosomal agammaglobulinemia
autosomal dominant combined immunodeficiency due to ERBIN deficiency
autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
autosomal recessive agammaglobulinemia 1
autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
autosomal recessive combined immunodeficiency due to IL6R deficiency
autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
B cell deficiency
Bruton-type agammaglobulinemia
C1 inhibitor deficiency
C1Q deficiency
C1Q deficiency 1
C1Q deficiency 2
C1Q deficiency 3
Cernunnos-XLF deficiency
chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
classic complement early component deficiency
combined immunodeficiency
combined immunodeficiency due to CD3gamma deficiency
combined immunodeficiency due to CRAC channel dysfunction
combined immunodeficiency due to CTPS1 deficiency
combined immunodeficiency due to dimerization defective IKAROS mutation
combined immunodeficiency due to DOCK8 deficiency
combined immunodeficiency due to GINS1 deficiency
combined immunodeficiency due to LRBA deficiency
combined immunodeficiency due to MALT1 deficiency
combined immunodeficiency due to moesin deficiency
combined immunodeficiency due to ORAI1 deficiency
combined immunodeficiency due to OX40 deficiency
combined immunodeficiency due to partial RAG1 deficiency
combined immunodeficiency due to POLE2 deficiency
combined immunodeficiency due to STIM1 deficiency
combined immunodeficiency due to STK4 deficiency
combined immunodeficiency due to TBX1 deficiency
combined immunodeficiency due to ZAP70 deficiency
combined immunodeficiency syndrome
combined immunodeficiency with faciooculoskeletal anomalies
combined immunodeficiency with low Ig due to BCL10 deficiency
combined immunodeficiency with skin granulomas
combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
combined immunodeficiency, X-linked
common variable immunodeficiency
complement component 2 deficiency
complement component 3 deficiency
complement component 4a deficiency
complement component 4b deficiency
complement component 5 deficiency
complement component 6 deficiency
complement component 7 deficiency
complement component 9 deficiency
complement component C1r/C1s deficiency
complement component C1s deficiency
complement deficiency
complement factor I deficiency
complement receptor deficiency
congenital agammaglobulinemia
congenital T-cell immunodeficiency
cryptosporidiosis-chronic cholangitis-liver disease syndrome
deafness-lymphedema-leukemia syndrome
deficiency in anterior pituitary function - variable immunodeficiency syndrome
DiGeorge syndrome
disorder of lectin complement activation pathway
DNA ligase IV deficiency
DNAJC21-related Shwachman Diamond syndrome
DOCK2 deficiency
dysgammaglobulinemia
early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation
ectodermal dysplasia and immunodeficiency 1
FADD-related immunodeficiency
familial severe combined immunodeficiency
FASLG-related immunodeficiency
FNIP1-associated syndrome
GATA2 deficiency with susceptibility to MDS/AML
Good syndrome
granulocytopenia with immunoglobulin abnormality
hatipoglu immunodeficiency syndrome
HELIOS deficiency
hyper-IgE recurrent infection syndrome 1, autosomal dominant
hyper-IgE recurrent infection syndrome 3, autosomal recessive
hyper-IgE recurrent infection syndrome 4, autosomal recessive
hyper-IgE recurrent infection syndrome 4A, autosomal dominant
hyper-IgE recurrent infection syndrome 5, autosomal recessive
hyper-IgE syndrome
hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
hyper-IgM syndrome
hyper-IgM syndrome type 1
hyper-IgM syndrome type 2
hyper-IgM syndrome type 3
hyper-IgM syndrome type 4
hyper-IgM syndrome type 5
hyperimmunoglobulin syndrome
hypoproteinemia, hypercatabolic
idiopathic CD4 lymphocytopenia
idiopathic CD4-positive T-lymphocytopenia
IgAD1
IKBKG-related immunodeficiency with or without ectodermal dysplasia
IKZF2-related combined immunodeficiency
IL21-related infantile inflammatory bowel disease
immune deficiency due to impaired neutrophil phagocytosis and migration
immune deficiency, familial variable
immunodeficiency 101 (varicella zoster virus-specific)
immunodeficiency 102
immunodeficiency 104
immunodeficiency 105
immunodeficiency 106, susceptibility to viral infections
immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
immunodeficiency 109 with lymphoproliferation
immunodeficiency 112
immunodeficiency 113 with autoimmunity and autoinflammation
immunodeficiency 114, folate-responsive
immunodeficiency 115 with autoinflammation
immunodeficiency 117
immunodeficiency 118
immunodeficiency 119
immunodeficiency 11b with atopic dermatitis
immunodeficiency 120
immunodeficiency 121 with autoinflammation
immunodeficiency 122
immunodeficiency 123 with HPV-related verrucosis
immunodeficiency 125
immunodeficiency 126, susceptibility to
immunodeficiency 127
immunodeficiency 131
immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy
immunodeficiency 134 (Epstein-Barr virus-specific)
immunodeficiency 14
immunodeficiency 14b, autosomal recessive
immunodeficiency 15a
immunodeficiency 18
immunodeficiency 19
immunodeficiency 23
immunodeficiency 25
immunodeficiency 28
immunodeficiency 31B
immunodeficiency 32B
immunodeficiency 33
immunodeficiency 35
immunodeficiency 36 with lymphoproliferation
immunodeficiency 37
immunodeficiency 39
immunodeficiency 45
immunodeficiency 47
immunodeficiency 49
immunodeficiency 51
immunodeficiency 53
immunodeficiency 57
immunodeficiency 60
immunodeficiency 61
immunodeficiency 62
immunodeficiency 63 with lymphoproliferation and autoimmunity
immunodeficiency 64
immunodeficiency 65, susceptibility to viral infections
immunodeficiency 66
immunodeficiency 67
immunodeficiency 69
immunodeficiency 70
immunodeficiency 72 with autoinflammation
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
immunodeficiency 74, COVID-19-related, X-linked
immunodeficiency 75
immunodeficiency 76
immunodeficiency 77
immunodeficiency 78 with autoimmunity and developmental delay
immunodeficiency 79
immunodeficiency 80 with or without congenital cardiomyopathy
immunodeficiency 81
immunodeficiency 82 with systemic inflammation
immunodeficiency 84
immunodeficiency 85 and autoimmunity
immunodeficiency 86
immunodeficiency 87 and autoimmunity
immunodeficiency 88
immunodeficiency 89 and autoimmunity
immunodeficiency 91 and hyperinflammation
immunodeficiency 92
immunodeficiency 94 with autoinflammation and dysmorphic facies
immunodeficiency 95
immunodeficiency 96
immunodeficiency 97 with autoinflammation
immunodeficiency 98 with autoinflammation, X-linked
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
immunodeficiency due to a classical component pathway complement deficiency
immunodeficiency due to a late component of complement deficiency
immunodeficiency due to CD25 deficiency
immunodeficiency due to ficolin3 deficiency
immunodeficiency due to MASP-2 deficiency
immunodeficiency due to selective anti-polysaccharide antibody deficiency
immunodeficiency, common variable, 1
immunodeficiency, common variable, 10
immunodeficiency, common variable, 12
immunodeficiency, common variable, 14
immunodeficiency, common variable, 15
immunodeficiency, common variable, 2
immunodeficiency, common variable, 3
immunodeficiency, common variable, 4
immunodeficiency, common variable, 5
immunodeficiency, common variable, 6
immunodeficiency, common variable, 7
immunodeficiency, common variable, due to APRIL deficiency
Immunoerythromyeloid hypoplasia
immunoglobulin A deficiency 2
immunoglobulin beta deficiency
IRF4-related combined immunodeficiency
IRF4-related immune disorder
isolated agammaglobulinemia
ITPKB deficiency
janus kinase-3 deficiency
late-onset combined immunodeficiency due to ICOSL deficiency
lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
lymphoproliferative syndrome 1
MAN2B2 deficiency
mannose-binding lectin deficiency
MHC class I deficiency
MHC class I deficiency 1
MHC class I deficiency 2
MHC class I deficiency 3
MHC class II deficiency
MHC class II deficiency 1
MHC class II deficiency 2
MHC class II deficiency 3
MHC class II deficiency 4
MHC class II deficiency 5
monocytopenia with susceptibility to infections
myalgic encephalomeyelitis/chronic fatigue syndrome
Netherton syndrome
neutrophil immunodeficiency syndrome
Nezelof syndrome
NFATC1-related combined immunodeficiency
NIK deficiency
non-SCID combined immunodeficiency
non-severe combined immunodeficiency due to COPG1 deficiency
non-severe combined immunodeficiency due to polymerase delta deficiency
Omenn syndrome
pancytopenia due to IKZF1 mutations
PAX5-related B lymphopenia and autism spectrum disorder
Pelger-Huet-like anomaly and episodic fever with abdominal pain
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
POLD2-related combined immunodeficiency
POLD3-related combined immunodeficiency
primary immunodeficiency due to calcium channel deficiency
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
PTEN harmartoma tumor syndrome with immune disorder
pulmonary alveolar proteinosis with hypogammaglobulinemia
pyogenic bacterial infections due to MyD88 deficiency
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
recombinase activating gene 1 deficiency
recombinase activating gene 2 deficiency
recurrent Neisseria infections due to factor D deficiency
reticular dysgenesis
reticular dysgenesis-like severe combined immunodeficiency
secretory component deficiency
selective IgA deficiency disease
selective IgD deficiency disease
selective IgE deficiency disease
selective IgG immunodeficiency
selective IgG subclass deficiency
selective IgM deficiency
selective immunoglobulin deficiency disease
severe combined immunodeficiency
severe combined immunodeficiency due to CARD11 deficiency
severe combined immunodeficiency due to CARMIL2 deficiency
severe combined immunodeficiency due to CD70 deficiency
severe combined immunodeficiency due to CORO1A deficiency
severe combined immunodeficiency due to DCLRE1C deficiency
severe combined immunodeficiency due to DNA-PKcs deficiency
severe combined immunodeficiency due to IKK2 deficiency
severe combined immunodeficiency due to LAT deficiency
severe combined immunodeficiency due to LCK deficiency
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
short-limb skeletal dysplasia with severe combined immunodeficiency
Shwachman-Diamond syndrome 1
syndromic agammaglobulinemia
T-B- severe combined immunodeficiency
T-B+ severe combined immunodeficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-cell immunodeficiency
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T+ B+ severe combined immunodeficiency
TCR-alpha-beta-positive T-cell deficiency
TFRC-related combined immunodeficiency
TNFRSF9-related immunodeficiency
TRAF3 haploinsufficiency
transient hypogammaglobulinemia
transient hypogammaglobulinemia of infancy
type I complement component 8 deficiency
type II complement component 8 deficiency
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome 2
Wiskott-Aldrich syndrome, autosomal dominant form
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome

MONDO:0021094 MedGen 7034

Inborn error of immunity

Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

Also known as

antibody deficiency syndrome; antibody deficiency syndromes; deficiency syndrome, antibody; deficiency syndrome, immunologic; deficiency syndrome, immunological; deficiency syndromes, antibody; deficiency syndromes, immunologic; deficiency syndromes, immunological; IEI; immunologic deficiency syndrome; immunological deficiency syndrome; immunological deficiency syndromes; inborn errors of immunity; primary immunodeficiency disease; syndrome, antibody deficiency; syndrome, immunologic deficiency; syndrome, immunological deficiency; syndromes, antibody deficiency; syndromes, immunologic deficiency; syndromes, immunological deficiency

Includes 235 related subtypes ↓

A20 haploinsufficiency
activated PI3K-delta syndrome
agammaglobulinemia
agammaglobulinemia 10, autosomal dominant
agammaglobulinemia 2, autosomal recessive
agammaglobulinemia 3, autosomal recessive
agammaglobulinemia 4, autosomal recessive
agammaglobulinemia 5, autosomal dominant
agammaglobulinemia 6, autosomal recessive
agammaglobulinemia 7, autosomal recessive
agammaglobulinemia 8, autosomal dominant
agammaglobulinemia 8b, autosomal recessive
agammaglobulinemia 9, autosomal recessive
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
agammaglobulinemia, autosomal recessive, due to BOB1 deficiency
Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Aicardi-Goutieres syndrome 8
Aicardi-Goutieres syndrome 9
atypical hemolytic uremic syndrome with complement gene abnormality
atypical hemolytic-uremic syndrome
atypical hemolytic-uremic syndrome with anti-factor H antibodies
atypical hemolytic-uremic syndrome with B factor anomaly
atypical hemolytic-uremic syndrome with C3 anomaly
atypical hemolytic-uremic syndrome with DGKE deficiency
atypical hemolytic-uremic syndrome with H factor anomaly
atypical hemolytic-uremic syndrome with I factor anomaly
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
atypical hemolytic-uremic syndrome with thrombomodulin anomaly
atypical lymphoproliferative disorder
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
autoimmune lymphoproliferative syndrome
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
autoimmune lymphoproliferative syndrome type 1
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 4
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
autosomal agammaglobulinemia
autosomal dominant combined immunodeficiency due to ERBIN deficiency
autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
autosomal recessive agammaglobulinemia 1
autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
autosomal recessive combined immunodeficiency due to IL6R deficiency
autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
B cell deficiency
basal ganglia calcification, idiopathic, childhood-onset
BENTA disease
Bruton-type agammaglobulinemia
C1 inhibitor deficiency
C1Q deficiency
C1Q deficiency 1
C1Q deficiency 2
C1Q deficiency 3
candidiasis, familial, 1
candidiasis, familial, 3
candidiasis, familial, 4
candidiasis, familial, 6
candidiasis, familial, 8
candidiasis, familial, 9
cartilage-hair hypoplasia
Castleman disease
Castleman-Kojima disease
Chediak-Higashi syndrome
chronic granulomatous disease
chronic mucocutaneous candidiasis
chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation
chronic mucocutaneous candidiasis due to lymphokine deficiency
chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
classic complement early component deficiency
combined immunodeficiency due to DOCK8 deficiency
combined immunodeficiency due to LRBA deficiency
combined immunodeficiency due to moesin deficiency
combined immunodeficiency with faciooculoskeletal anomalies
combined immunodeficiency with low Ig due to BCL10 deficiency
common variable immunodeficiency
complement component 2 deficiency
complement component 3 deficiency
complement component 4a deficiency
complement component 4b deficiency
complement component 5 deficiency
complement component 6 deficiency
complement component 7 deficiency
complement component 9 deficiency
complement component C1r/C1s deficiency
complement component C1s deficiency
complement deficiency
complement factor I deficiency
complement receptor deficiency
congenital agammaglobulinemia
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
deficiency in anterior pituitary function - variable immunodeficiency syndrome
dendritic cell deficiency
Dianzani autoimmune lymphoproliferative disease
disorder of lectin complement activation pathway
dysgammaglobulinemia
ectodermal dysplasia and immune deficiency
ectodermal dysplasia and immunodeficiency 1
ectodermal dysplasia and immunodeficiency 2
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
familial hemophagocytic lymphohistiocytosis 5
familial hemophagocytic lymphohistiocytosis type 1
familial isolated congenital asplenia
FAS-related autoimmune lymphoproliferative immune disorder
Good syndrome
granulomatous disease with defect in neutrophil chemotaxis
granulomatous disease, chronic, autosomal recessive, 5
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
granulomatous disease, chronic, X-linked
Griscelli syndrome type 2
hemophagocytic lymphohistiocytosis due to RhoG deficiency
hemophagocytic lymphohistiocytosis, familial, 6
hepatic veno-occlusive disease-immunodeficiency syndrome
hereditary hemophagocytic lymphohistiocytosis
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 9
hyper-IgE recurrent infection syndrome 1, autosomal dominant
hyper-IgE recurrent infection syndrome 3, autosomal recessive
hyper-IgE recurrent infection syndrome 4, autosomal recessive
hyper-IgE recurrent infection syndrome 4A, autosomal dominant
hyper-IgE recurrent infection syndrome 5, autosomal recessive
hyper-IgE syndrome
hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
hyper-IgM syndrome
hyper-IgM syndrome type 1
hyper-IgM syndrome type 2
hyper-IgM syndrome type 3
hyper-IgM syndrome type 4
hyper-IgM syndrome type 5
hyperimmunoglobulin syndrome
idiopathic multicentric Castleman disease
IgAD1
IL10-related early-onset inflammatory bowel disease
IL21-related infantile inflammatory bowel disease
immune deficiency, familial variable
immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
immuno-osseous dysplasia
immunodeficiency 14
immunodeficiency 28
immunodeficiency 33
immunodeficiency 36 with lymphoproliferation
immunodeficiency 37
immunodeficiency 39
immunodeficiency 47
immunodeficiency 49
immunodeficiency 51
immunodeficiency 61
immunodeficiency 94 with autoinflammation and dysmorphic facies
immunodeficiency due to a classical component pathway complement deficiency
immunodeficiency due to a late component of complement deficiency
immunodeficiency due to ficolin3 deficiency
immunodeficiency due to MASP-2 deficiency
immunodeficiency with defective T-cell response to interleukin 1
immunodeficiency, common variable, 1
immunodeficiency, common variable, 10
immunodeficiency, common variable, 12
immunodeficiency, common variable, 14
immunodeficiency, common variable, 15
immunodeficiency, common variable, 2
immunodeficiency, common variable, 3
immunodeficiency, common variable, 4
immunodeficiency, common variable, 5
immunodeficiency, common variable, 6
immunodeficiency, common variable, 7
immunodeficiency, common variable, due to APRIL deficiency
immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein
immunodysregulation with variable immunodeficiency and autoimmunity
immunoglobulin A deficiency 2
immunoglobulin beta deficiency
immunoglobulin heavy chain deficiency
inflammatory bowel disease 25
inflammatory bowel disease 28
inflammatory bowel disease-recurrent sinopulmonary infections syndrome
isolated agammaglobulinemia
localized Castleman disease
lymphoproliferative syndrome
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
mannose-binding lectin deficiency
metaphyseal dysplasia without hypotrichosis
multicentric Castleman disease
Netherton syndrome
NK cell deficiency
pancytopenia due to IKZF1 mutations
PAX5-related B lymphopenia and autism spectrum disorder
pediatric Castleman disease
phagocyte bactericidal dysfunction
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
properdin deficiency, X-linked
recurrent infections associated with rare immunoglobulin isotypes deficiency
recurrent Neisseria infections due to factor D deficiency
Say-Barber-Miller syndrome
Schimke immuno-osseous dysplasia
secretory component deficiency
selective IgA deficiency disease
selective IgD deficiency disease
selective IgE deficiency disease
selective IgG immunodeficiency
selective IgG subclass deficiency
selective IgM deficiency
selective immunoglobulin deficiency disease
severe combined immunodeficiency due to CD70 deficiency
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
STAT5 haploinsufficiency
syndromic agammaglobulinemia
T cell and NK cell immunodeficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
transient hypogammaglobulinemia
transient hypogammaglobulinemia of infancy
TREX1-related autosomal dominant Aicardi-Goutieres syndrome
trichohepatoenteric syndrome
trichohepatoenteric syndrome 1
trichohepatoenteric syndrome 2
type 3 autoimmune lymphoproliferative syndrome
type I complement component 8 deficiency
type II complement component 8 deficiency
X-linked immunoneurologic disorder
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome

MONDO:0003778 Orphanet 101997 MedGen 585013

Why whole genome sequencing

450+ PID genes cannot be evaluated by any single immunological assay. Immunoglobulin levels and lymphocyte subsets identify immune deficiency but not its genetic cause; molecular diagnosis is required for definitive management.

SCID is curable if diagnosed before the first infection: HSCT before 3.5 months produces >95% survival

The specific SCID gene determines the optimal HSCT conditioning regimen, donor selection, and the feasibility of gene therapy as an alternative. IL2RG-SCID (X-linked) has an active gene therapy program. ADA-SCID has an approved gene therapy (Strimvelis). RAG1/RAG2-SCID requires myeloablative conditioning for engraftment. These gene-specific transplant decisions require rapid molecular diagnosis in the newborn period, ideally within the first weeks of life. WGS provides comprehensive SCID gene evaluation faster than sequential single-gene testing.

CVID affects 1 in 25,000 adults, and many carry monogenic variants with specific targeted therapies

CVID was previously considered a diagnosis of exclusion with unknown genetic basis. Genomic studies have identified monogenic causes in 25-30% of CVID patients, including TNFRSF13B (TACI), NFKB1, CTLA4, PIK3CD, PIK3R1, LRBA, and others. Several of these have specific targeted therapies: abatacept for CTLA4/LRBA deficiency, leniolisib for PIK3CD gain-of-function. Patients receiving standard immunoglobulin replacement alone may benefit from additional targeted therapy once their specific genetic cause is identified by WGS.

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