Rare Diseases

PID

Primary immunodeficiency

T−B+ Severe Combined Immunodeficiency (SCID)

  • γc deficiency
  • JAK3 deficiency Mutation of JAK3
  • IL7Rα deficiency Mutation of IL7RA
  • CD45 deficiency Mutation of PTPRC
  • CD3δ deficiency
  • CD3ε deficiency
  • CD3ζ deficiency
  • Coronin-1A deficiency

T−B− SCID DNA recombination defects

  • RAG 1 deficiency Mutation of RAG1
  • RAG 2 deficiency
  • DCLRE1C (Artemis) deficiency
  • DNA PKcs deficiency
  • Cernunnos/XLF deficiency
  • DNA ligase IV deficiency
  • Reticular dysgenesis, AK2 deficiency
  • Adenosine deaminase, (ADA) deficiency

Combined immunodeficiencies generally less profound than severe combined immunodeficiency

  • DOCK2 deficiency
  • CD40 ligand deficiency
  • CD40 deficiency
  • ICOS deficiency
  • CD3γ deficiency
  • CD8 deficiency
  • ZAP-70 deficiency
  • MHC class I deficiency
  • MHC class I deficiency
  • MHC class II deficiency group A
  • MHC class II deficiency group B
  • MHC class II deficiency group C
  • MHC class II deficiency group D
  • ITK deficiency
  • MAGT1 deficiency
  • DOCK8 deficiency
  • RhoH deficiency
  • MST1 deficiency
  • TCRα deficiency
  • LCK deficiency
  • MALT1 deficiency
  • CARD11 deficiency
  • BCL10 deficiency
  • IL-21 deficiency
  • IL-21R deficiency
  • OX40 deficiency
  • IKBKB deficiency
  • LRBA deficiency
  • CD27 deficiency
  • NIK deficiency
  • CTPS1 deficiency
  • Omenn syndrome

Congenital thrombocytopenia

  • Wiskott-Aldrich syndrome (WAS)
  • WIP deficiency

DNA repair defects (other than those in group 1)

  • Ataxia-telangiectasia
  • Nijmegen breakage syndrome
  • Bloom syndrome
  • Immunodeficiency with centromeric instability and facial anomalies (ICF1)
  • Immunodeficiency with centromeric instability and facial anomalies (ICF2)
  • PMS2 deficiency
  • RNF168 deficiency
  • MCM4 deficiency

Thymic defects with additional congenital anomalies

  • DiGeorge syndrome
  • CHARGE syndrome due to CHD7 defects
  • CHARGE syndrome due to SEMA3E defects
  • Winged helix deficiency (nude), AAB: syndromic SCID

Immune-osseous dysplasias

  • Cartilage hair hypoplasia
  • Schimke Immunoosseous Dysplasia

Hyper-IgE syndromes (HIES)

  • AD-HIES (Job or Buckley Syndrome)
  • Comel-Netherton syndrome
  • PGM3 deficiency

Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenance

  • XL-DKC due to Dyskerin deficiency
  • AR-DKC due to nucleolar protein family A member 2 (NHP2) deficiency
  • AR-DKC due to nucleolar protein family A member 3 (NHP3) or NOP10 deficiency
  • AR-DKC due to regulator of telomere elongation (RTEL1) deficiency
  • AD-DKC due to TERC deficiency
  • AD-DKC due to TERT deficiency
  • AD-DKC due to TINF2 deficiency
  • AD/AR -DKC due to TPP1 deficiency
  • AR-DKC due to DCLRE1B deficiency
  • AR-DKC due to PARN deficiency

Defects of Vitamin B12 and Folate metabolism

  • Transcobalamin 2 (TCN2) deficiency
  • SLC46A1/PCFT deficiency causing hereditary folate malabsorbtion
  • Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency

Anhidrotic ectodermaldysplasia with immunodeficiency (EDA-ID)

  • EDA-ID. NEMO /IKBKG deficiency
  • EDA-ID IKBA gain of function mutation

Calcium channel defects

  • ORAI-I deficiency
  • STIM1 deficiency

Other defects

  • Hepatic veno-occlusive disease with immunodeficiency (VODI)
  • Facial dysmorphism, immunodeficiency, livedo, short stature (FILS) syndrome
  • Immunodeficiency with multiple intestinal atresias
  • Vici syndrome due to EPG5 deficiency
  • Purine nucleoside phosphorylase (PNP) deficiency
  • HOIL1 deficiency
  • HOIP deficiency
  • Hennekam-lymphangiectasialymphedema syndrome
  • STAT5b deficiency

Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells

  • BTK deficiency
  • μ heavy chain deficiency
  • λ5 deficiency
  • Igα deficiency
  • Igβ deficiency
  • BLNK deficiency
  • PI3KR1 deficiency
  • E47 transcription factor deficiency
  • Thymoma with immunodeficiency

Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells

  • Common variable immunodeficiency disorders
  • CD19 deficiency
  • CD81 deficiency
  • CD20 deficiency
  • CD21 deficiency
  • TACI deficiency
  • BAFF receptor deficiency
  • TWEAK deficiency
  • NFKB2 deficiency
  • MOGS deficiency
  • TRNT1 deficiency
  • TTC37 deficiency

Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells

  • AID deficiency
  • UNG deficiency
  • INO80
  • MSH6

Isotype or light chain deficiencies with generally normal numbers of B cells

  • Activated PI3K-δ
  • PI3KR1 loss of function
  • Ig heavy chain mutations and deletions
  • IGKC deficiency
  • Isolated IgG subclass deficiency
  • IgAwith IgG subclass deficiency
  • Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells
  • Transient hypogammaglobulinemia of infancy with normal numbers of B cells
  • CARD 11 gain of function

Familial hemophagocytic lymphohistiocytosis (FHL) syndromes without hypopigmentation

  • Perforin deficiency (FHL2)
  • UNC13D / Munc13-4 deficiency (FHL3)
  • Syntaxin 11 deficiency, (FHL4)
  • STXBP2 / Munc18-2 deficiency (FHL5)
  • SH2D1A deficiency (XLP1)
  • XIAP deficiency (XLP2)

Familial hemophagocytic lymphohistiocytosis (FHL) syndromes  with hypopigmentation

  • Chediak-Higashi syndrome
  • Griscelli syndrome, type2
  • Hermansky-Pudlak syndrome, type 2
  • Hermansky-Pudlak syndrome, type 9

T regulatory cells genetic defects

  • IPEX, immune dysregulation, polyendocrinopathy, enteropathy X-linked
  • CD25 deficiency
  • CTLA4 deficiency (ALPSV)
  • STAT3 GOF mutations

Autoimmunity with or without lymphoproliferation

  • APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy
  • ITCH deficiency
  • Tripeptidyl-Peptidase II Deficiency

Autoimmune lymphoproliferative syndrome (ALPS)

  • ALPS-FAS
  • ALPS-FASLG
  • ALPS-Caspase10
  • ALPS-Caspase 8
  • FADD deficiency
  • PRKC delta deficiency

Immune dysregulation with colitis

  • IL-10 deficiency
  • IL-10Rα deficiency
  • IL-10Rβ deficiency
  • NFAT5 haploinsufficiency

Type 1 Interferonopathies

  • TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)
  • RNASEH2B deficiency, AGS2
  • RNASEH2C deficiency, AGS3
  • RNASEH2A deficienc y, AGS4
  • SAMHD1 deficiency, AGS5
  • ADAR1 deficiency, AGS6
  • Aicardi-Goutieres syndrome 7 (AGS7)
  • Spondyloenchondro-dysplasia with immune dysregulation (SPENCD)
  • STING–associated vasculopathy, infantileonset

Congenital neutropenias

  • Elastase deficiency (SCN1)
  • GFI 1 deficiency (SCN2)
  • Kostmann Disease (SCN3)
  • G6PC3 deficiency (SCN4)
  • VPS45 deficiency (SCN5)
  • Glycogen storage disease type 1b
  • Cyclic neutropenia
  • X-linked neutropenia/ myelodysplasia
  • P14/LAMTOR2 deficiency
  • Barth Syndrome
  • Cohen syndrome
  • Clericuzio syndrome Poikiloderma with neutropenia
  • JAGN1 deficiency
  • 3-Methylglutaconic aciduria
  • G-CSF receptor deficiency

Defects of Motility

  • Leukocyte adhesion deficiency type 1 (LAD1)
  • Leukocyte adhesion deficiency type 2 (LAD2)
  • Leukocyte adhesion deficiency type 3 (LAD3)
  • Rac 2 deficiency
  • β-actin deficiency
  • Localized juvenile periodontitis
  • Papillon-Lefèvre Syndrome
  • Specific granule deficiency
  • Shwachman-Diamond Syndrome

Defects of Respiratory Burst

  • X-linked chronic granulomatous disease (CGD)
  • Autosomal recessive CGD
  • Autosomal recessive CGD
  • Autosomal recessive CGD
  • Autosomal recessive CGD

Other Defects

  • GATA2 deficiency (Mono MAC syndrome)
  • Pulmonary alveolar proteinosis*

Medelian Susceptibility to mycobacterial disease (MSMD)

  • IL-12 and IL-23 receptor β1 chain deficiency
  • IL-12p40 deficiency
  • IFN-γ receptor 1 deficiency
  • IFN-γ receptor 1 deficiency
  • IFN-γ receptor 2 deficiency
  • STAT1 deficiency (AD form)
  • Macrophage gp91 phox deficiency
  • IRF8-deficiency (AD form)
  • Tyk2 deficiency
  • ISG15 deficiency
  • RORc deficiency

Epidermodysplasia verruciformis

  • EVER1 deficiency
  • EVER2 deficiency
  • WHIM (Warts, Hypogammaglobulinemia, infections, Myelokathexis) syndrome

Predisposition to severe viral infection

  • STAT1 deficiency
  • STAT2 deficiency
  • IRF7 deficiency
  • CD16 deficiency

Herpes simplex encephalitis (HSE)

  • TLR3 deficiency
  • UNC93B1 deficiency
  • TRAF3 deficiency
  • TRIF deficiency
  • TBK1 deficiency

Predisposition to invasive fungal diseases

  • CARD9 deficiency

Chronic mucocutaneous candidiasis (CMC)

  • IL-17RA deficiency
  • IL-17RC deficiency
  • IL 17F deficiency
  • STAT1 gain-of-function
  • ACT1 deficiency

TLR signaling pathway deficiency

  • IRAK-4 deficiency
  • MyD88 deficiency
  • Isolated congenital asplenia (ICA)
  • Trypanosomiasis

AID

Autoinflammatory disorders

Defects affecting the inflammasome

  • Familial Mediterranean Fever
  • Mevalonate kinase deficiency(Hyper IgD syndrome)
  • Muckle-Wells syndrome
  • Familial cold autoinflammatory syndrome 1
  • Familial cold autoinflammatory syndrome 2
  • Neonatal onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous and articular syndrome (CINCA)
  • NLRC4-MAS (macrophage activating syndrome)Familial cold autoinflammatory syndrome 4
  • Cryopyrin-associated periodic syndromes (CAPS)  E85.0
  • APLAID (autoinflammation and PLCγ2 associated antibody deficiency and immune dysregulation)

Non inflammasome-related conditions

  • TNF receptor-associated periodic syndrome (TRAPS)
  • Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome
  • Blau syndrome
  • ADAM17 deletion
  • Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
  • DIRA (Deficiency of the Interleukin 1 Receptor Antagonist)
  • DITRA – Deficiency of IL-36 receptor antagonist
  • SLC29A3 mutation (H syndrome)
  • CAMPS (CARD14 mediated psoriasis)
  • Cherubism
  • COPA defect
  • ADA2 deficiency
  • Chronic recurrent multifocal osteomyelitis (CRMO)
  • Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)
  • Familial cold autoinflammatory syndrome-2 (FCAS2)  E85.0
  • Outulin deficiency
  • Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA)
  • SAPHO Syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis)

Type 1 Interferonopathies

  • TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)
  • Familial chillblain lupus 1
  • RNASEH2B deficiency, AGS2
  • RNASEH2C deficiency, AGS3
  • RNASEH2A deficienc y, AGS4
  • SAMHD1 deficiency, AGS5
  • Familial chillblain lupus 2
  • ADAR1 deficiency, AGS6
  • Aicardi-Goutieres syndrome 7(AGS7)
  • Spondyloenchondro-dysplasia with immune dysregulation (SPENCD)
  • STING–associated vasculopathy, infantileonset
  • CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)
  • Autosomal recessive Systemic Lupus Erythematous

Monogenic Inflammatory bowel diseases

  • IL-10 deficiency
  • IL-10Rα deficiency
  • IL-10Rβ deficiency
  • NFAT5 haploinsufficiency

Miscellaneous

  • PLAID (PLCγ2 associated antibody deficiency and immune dysregulation)Familial cold autoinflammatory syndrome 3
  • H syndrome
  • Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)
  • Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
  • Secondary AA amyloidosis
  • Systemic amyloidosis

AI

Autoimmune disease

Autoimmune systemic vasculitis adult and paediatric

  • Behcet’s Disease
  • Microscopic polyangiitis
  • Primary CNS vasculitis
  • Anti-GBM disease
  • Cogan’s syndrome
  • Hypocomplementaemic urticarial vasculitis
  • Cryoglobulinaemia: • essential • idiopathic • mixed  • primary • secondary
  • Eosinophilic granulomatosis with polyangiitis (EGPA)
  • Granulomatosis with polyangiitis
  • Kawasaki disease
  • IgA vasculitis (HSP)
  • Polyarteritis nodosa
  • Rare Paediatric vasculitis
  • Takayasu arteritis

Autoimmune Neuroinflammation Adult and Paediatric

  • Acute demyelinating encephalomyelitis
  • Autoimmune encephalitis
  • Autoimmune neuro-inflammatory disease
  • Balo Disease
  • Post infectious encephalitis
  • Opsoclonus-myoclonus syndrome
  • Neuromyelitis optica
  • Guillain-Barre Syndrome (GBS)
  • Hashimoto Encephalitis
  • Multifocal Motor Neuropathy (MMN)
  • Idiopathic transverse myelitis
  • Inflammatory optic neuritis
  • Primary or secondary lymphohisticytosis affecting CNS
  • Rare central nervous and vascular disease
  • Rassmussen Encephalitis
  • Spondyloenchondrodysplasia
  • Rhombencephalitis
  • Shilder disease

Pediatric rheumatic diseases

  • Juvenile Idiopathic Arthritis (JIA) subtype oligoarticular JIA
  • JIA subtype Juvenile Spondyloarthritis/Enthesitis Related Arthritis (Spa-Era)
  • JIA subtype extended oligoarticular JIA
  • JIA subtype polyarticular JIA – RF positive
  • JIA subtype polyarticular JIA –  RF negative
  • Systemic JIA
  • Macrophage activation syndrome
  • Juvenile Psoriatic Arthritis
  • JIA unclassified
  • Pigmented villonodular synovitis
  • Scleroderma systemic and localised
  • Crest syndrome
  • Diffuse eosinophilic fasciitis
  • Childhood antiphospholipid syndrome
  • Mixed connective tissue disease
  • Childhood SLE
  • Juvenile Dermatomyositis and polymyositis
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Relapsing polychondritis
  • Chronic Recurrent multifocal Osteomyelitis (CRMO)
  • pediatric non infectious uveitis
  • Fibrodysplasia ossificans progressiva
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