RGDs registry under the 'Immune disorders'
| Disorder Name (Total=36) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Familial Cold Autoinflammatory Syndrome Autosomal dominant |
•Cold urticaria |
Autoinflammatory diseases |
NLRP12 NLR family pyrin domain containing 12 NLRP3 NLR family pyrin domain containing 3 PLCG2 phospholipase C gamma 2 NLRC4 NLR family CARD domain containing 4 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Ankylosing spondylitis |
•Spondyloarthropathy |
Rheumatoid arthritis |
PTGER4 prostaglandin E receptor 4 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Metaphyseal chondrodysplasia, Jansen type Autosomal dominant |
Primary immunodeficiencies |
PTH1R parathyroid hormone 1 receptor |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Metaphyseal chondrodysplasia, McKusick type Autosomal recessive |
•Cartilage hair hypoplasia •Cartilage-hair hypoplasia •McKusick type |
Primary immunodeficiencies |
RMRP RNA component of mitochondrial RNA processing endoribonuclease |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Common variable immune deficiency Autosomal dominant, Autosomal recessive |
B cell deficiency |
CD19 CD19 molecule TNFRSF13B TNF receptor superfamily member 13B TNFRSF13C TNF receptor superfamily member 13C |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Sjogren Syndrome Autosomal recessive |
•Sjögren’s Syndrome |
Autoimmune disorders |
IRF5 interferon regulatory factor 5 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| BENTA disease Autosomal dominant |
•B-cell expansion with NFKB and T-cell anergy |
Combined T and B cell immunodeficiency (Blood disorders) |
CARD11 caspase recruitment domain family member 11 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Chronic granulomatous disease Autosomal recessive, X-linked dominant |
Primary immunodeficiencies |
CYBB cytochrome b-245 beta chain NCF4 neutrophil cytosolic factor 4 NCF2 neutrophil cytosolic factor 2 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Common variable immunodeficiency Autosomal dominant, Autosomal recessive |
B cell deficiency |
TTC7A tetratricopeptide repeat domain 7A NFKB1 nuclear factor kappa B subunit 1 RAG2 recombination activating 2 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Cryopyrin associated periodic syndrome Autosomal dominant |
•Cryopyrin-associated periodic syndrome •CAPS •Cryopyrinopathy •NLRP3-associated systemic autoinflammatory disease |
Autoinflammatory diseases |
NLRP3 NLR family pyrin domain containing 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Familial mediterranean fever Autosomal dominant, Autosomal recessive |
Autoinflammatory diseases |
MEFV MEFV innate immunity regulator, pyrin |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Goodpasture syndrome |
Primary immunodeficiencies |
COL4A3 collagen type IV alpha 3 chain |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Granulomatosis with polyangiitis |
•Midline granulomatosis •Wegener Granulomatosis •Wegener's granulomatosis |
Primary immunodeficiencies |
CTLA4 cytotoxic T-lymphocyte associated protein 4 PRTN3 proteinase 3 |
Reports Updated as of May 24, 2023 |
PubMed |
| Systemic lupus erythematosus Autosomal dominant |
•Lupus nephritis |
Primary immunodeficiencies |
IRF5 interferon regulatory factor 5 BLK BLK proto-oncogene, Src family tyrosine kinase TREX1 three prime repair exonuclease 1 SOCS1 suppressor of cytokine signaling 1 TLR7 toll like receptor 7 |
Reports Updated as of May 24, 2023 |
PubMed |
| Scleroderma |
Autoimmune disorders |
EXOSC10 exosome component 10 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Severe combined immunodeficiency due to DCLRE1C deficiency Autosomal recessive |
•SCID due to ARTEMIS deficiency |
Primary immunodeficiencies |
DCLRE1C DNA cross-link repair 1C LIG4 DNA ligase 4 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| TNF receptor-associated periodic fever syndrome Autosomal dominant |
•TRAPS syndrome •Familial Hibernian fever •Tumor necrosis factor receptor 1 associated periodic syndrome |
Autoinflammatory diseases |
TNFRSF1A TNF receptor superfamily member 1A |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Transverse myelitis |
Inflammatory diseases |
VPS37A VPS37A subunit of ESCRT-I |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Vasculitis |
Inflammatory diseases |
ADA2 adenosine deaminase 2 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Wiskott-Aldrich syndrome X-linked dominant |
•Wiskott Aldrich syndrome |
Primary immunodeficiencies |
WAS WASP actin nucleation promoting factor WIPF1 WAS/WASL interacting protein family member 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Blau syndrome Autosomal dominant |
•Arthrocutaneouveal granulomatosis |
Autoimmune diseases |
NOD2 nucleotide binding oligomerization domain containing 2 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| STING-associated vasculopathy with onset in infancy Autosomal dominant |
•SAVI |
Autoinflammatory diseases |
STING1 stimulator of interferon response cGAMP interactor 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Sarcoidosis Autosomal dominant |
•Besnier-Boeck-Schaumann disease •Boeck sarcoid |
- |
BTNL2 butyrophilin like 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Properdin deficiency X-linked dominant |
Primary immunodeficiencies |
CFP complement factor properdin |
Reports Updated as of Jan 04, 2024 |
PubMed | |
| Deafness-lymphedema-leukemia syndrome Autosomal dominant |
•Emberger syndrome •Hearing loss-lymphedema-leukemia syndrome |
- |
GATA2 GATA binding protein 2 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Autoerythrocyte sensitization syndrome |
•Gardner-Diamond syndrome •Painful bruising syndrome •Psychogenic purpura •Gardner Diamond syndrome •GDS |
Autoimmune diseases |
CRP C-reactive protein |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Autoimmune lymphoproliferative syndrome Autosomal dominant, Autosomal recessive |
•ALPS •Canale-Smith syndrome •Autoimmune lymphoproliferative syndrome type 1 |
Autoimmune disorders |
CASP8 caspase 8 FASLG Fas ligand FAS Fas cell surface death receptor PRKCD protein kinase C delta CTLA4 cytotoxic T-lymphocyte associated protein 4 CASP10 caspase 10 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| MHC class II deficiency Autosomal recessive |
•Immunodeficiency by defective expression of MHC class II •Bare lymphocyte syndrome type 2 •Bare lymphocyte syndrome, type II, complementation group a •Bare Lymphocyte Syndrome •Bare lymphocyte syndrome 2 •SCID, HLA CLASS II-NEGATIVE •SCID, HLA Class 2-Negative •Severe combined immunodeficiency, HLA class II negative |
Primary immunodeficiencies |
RFXANK regulatory factor X associated ankyrin containing protein RFX5 regulatory factor X5 RFXAP regulatory factor X associated protein CIITA class II major histocompatibility complex transactivator |
Reports Updated as of Jul 20, 2024 |
PubMed |
| X-linked agammaglobulinemia X-linked dominant |
•BTK-deficiency •Bruton type agammaglobulinemia •Agammaglobulinemia, X-linked, type 1 •Agammaglobulinemia, BTK •Agammaglobulinemia, Bruton tyrosine kinase •Bruton's agammaglobulinemia •Bruton-type agammaglobulinemia •Immunodeficiency 1 |
Primary immunodeficiencies |
BTK Bruton tyrosine kinase |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hyper-IgM syndrome type 1 X-linked recessive |
•Hyper IgM immunodeficiency, X-linked •hyper-IgM syndrome due to CD40 ligand deficiency •Hyper-IgM Immunodeficiency Syndrome, Type 1 •Immunodeficiency with hyper IgM type 1 •Immunodeficiency, X-linked, with hyper-IgM •X-linked hyper-IgM syndrome •hyper-IgM syndrome due to CD40L deficiency •hyperimmunoglobulin M syndrome •immunodeficiency, X-linked, with hyper-IgM, X-linked recessive •X-linked hyper-IgM syndrome •XHIGM |
B cell deficiency |
CD40LG CD40 ligand |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive |
•Hyper-IgE recurrent infection syndrome, autosomal recessive •Cid due to DOCK8 deficiency •combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency •dedicator of cytokinesis 8 deficiency •DOCK8 immunodeficiency syndrome •Dock8 deficiency •HIES autosomal recessive •Hyper-IgE recurrent infection syndrome 2, autosomal recessive •Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections |
B cell deficiency |
DOCK8 dedicator of cytokinesis 8 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Chédiak-Higashi syndrome Autosomal recessive |
•Chediak-Higashi syndrome •Chédiak-Higashi-Steinbrink syndrome |
Primary immunodeficiencies |
LYST lysosomal trafficking regulator |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Hereditary angioedema with C1Inh deficiency Autosomal dominant |
•Angioedema, hereditary, 1 and 2 •HAE with C1Inh deficiency •angioedema, hereditary, type 1/2 |
Inflammatory diseases |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Microcephaly, normal intelligence and immunodeficiency Autosomal recessive |
•Nijmegen breakage syndrome •Ataxia-telangiectasia, variant 1 •Berlin breakage syndrome •immunodeficiency-microcephaly-chromosomal instability syndrome •microcephaly-immunodeficiency-lymphoreticuloma syndrome •microcephaly, normal intelligence and immunodeficiency •Seemanova syndrome • Seemanova syndrome type 2 •Ataxia telangiectasia variant v1 •Immunodeficiency, microcephaly, and chromosomal instability •Immunodeficiency, microcephaly with normal intelligence •Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies •Nonsyndromal microcephaly autosomal recessive with normal intelligence •AT V1 |
Primary immunodeficiencies |
NBN nibrin |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Autosomal recessive hyper-IgE syndrome Autosomal recessive |
•Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency |
B cell deficiency |
DOCK8 dedicator of cytokinesis 8 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Hyper-IgE syndrome Autosomal dominant, Autosomal recessive |
•Hyperimmunoglobulin E syndrome •Hyper-IgE recurrent infection syndrome •HIES |
Primary immunodeficiencies |
STAT3 signal transducer and activator of transcription 3 PGM3 phosphoglucomutase 3 DOCK8 dedicator of cytokinesis 8 STAT6 signal transducer and activator of transcription 6 |
Reports Updated as of Feb 26, 2025 |
PubMed |