Rare Diseases


Primary immunodeficiency


  • Adenosine deaminase [ADA] deficiency D81.3
  • Agammaglobulinaemia with immunoglobulin-bearing B-lymphocytes Common variable agammaglobulinaemia [CVAgamma] Hypogammaglobulinaemia NOS
  • Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinaemia D80.6
  • Autosomal recessive agammaglobulinaemia (Swiss type) X-linked agammaglobulinaemia [Bruton] (with growth hormone deficiency)
  • Bare lymphocyte syndrome
  • Benign hypergammaglobulinaemic purpura Polyclonal gammopathy NOS
  • Combined immunodeficiencies D81
  • Combined immunodeficiency, unspecified D81.9
  • Common variable immunodeficiency D83
  • Common variable immunodeficiency with autoantibodies to B- or T-cells D83.2
  • Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function D83.0
  • Common variable immunodeficiency with predominant immunoregulatory T-cell disorders D83.1
  • Common variable immunodeficiency, unspecified D83.9
  • Di George syndrome D82.1
  • Disorder involving the immune mechanism, unspecified D89.9
  • Functional disorders of polymorphonuclear neutrophils
  • Haemophagocytic lymphohistiocytosis
  • Haemophagocytic syndrome, infection-associated
  • Hereditary hypogammaglobulinaemia
  • Hypergammaglobulinaemia, unspecified D89.2
  • Hyperimmunoglobulin E [IgE] syndrome D82.4
  • Immune disease NOS
  • Immunodeficiency associated with major defect, unspecified D82.9
  • Immunodeficiency associated with other major defects
  • Immunodeficiency associated with other specified major defects D82.8
  • Immunodeficiency following hereditary defective response to Epstein-Barr virus D82.3
  • Immunodeficiency with increased immunoglobulin M [IgM] D80.5
  • Immunodeficiency with predominantly antibody defects, unspecified D80.8
  • Immunodeficiency with short-limbed stature D82.2
  • Immunodeficiency with thrombocytopenia and eczema
  • Immunodeficiency, unspecified D84.9
  • Kappa light chain deficiency
  • Lyme disease
  • Lymphocyte function antigen-1 [LFA-1] defect D84.0
  • Major histocompatibility complex class I deficiency D81.6
  • Major histocompatibility complex class II deficiency D81.7
  • Nezelof syndrome D81.4
  • Nonfamilial hypogammaglobulinaemia D80.1
  • Other combined immunodeficiencies D81.8
  • Other common variable immunodeficiencies D83.8
  • Other disorders involving the immune mechanism, not elsewhere classified D89
  • Other immunodeficiencies D84
  • Other immunodeficiencies with predominantly antibody defects D80.8
  • Other specified disorders involving the immune mechanism, not elsewhere classified D89.8
  • Other specified immunodeficiencies D84.8
  • Pharyngeal pouch syndrome Thymic: • alymphoplasia • aplasia or hypoplasia with immunodeficiency
  • Polyclonal hypergammaglobulinaemia D89.0
  • Primary Immunodeficiencies
  • Scheuermann’s disease
  • Selective deficiency of immunoglobulin A [IgA] D80.2
  • Selective deficiency of immunoglobulin G [IgG] subclasses D80.3
  • Selective deficiency of immunoglobulin M [IgM] D80.4
  • Severe combined immunodeficiency [SCID] with low or normal B-cell numbers D81.2
  • Severe combined immunodeficiency [SCID] with low T- and B-cell numbers D81.1
  • Severe combined immunodeficiency [SCID] with reticular dysgenesis D81.0
  • Severe combined immunodeficiency disorder [SCID] NOS
  • Transient hypogammaglobulinaemia of infancy D80.7
  • Wiskott-Aldrich syndrome D82.0
  • X-linked lymphoproliferative disease


Autoinflammatory disorders


  • A20 haploinsuficiency
  • ADA2 deficiency
  • Behcet’s Disease
  • Blau Syndrome
  • CAMPS (CARD14 associated psoriasis)
  • Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE)
  • Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
  • Chronic recurrent multifocal osteomyelitis (CRMO)
  • COPA syndrome
  • Cryopyrin-associated periodic syndromes (CAPS) E85.0
  • Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)
  • Deficiency of the IL-1 receptor antagonist (DIRA)
  • Deficiency of the IL-36-receptor antagonist (DITRA)
  • Familial cold autoinflammatory syndrome-2 (FCAS2) E85.0
  • Familial Mediterranean Fever (FMF) E85.0
  • Hyper IgD Syndrome (HIDS)/mevalonate kinase deficiency (MKD) E85.0
  • Kawasaki disease
  • Majeed Syndrome
  • Monogeneic SLE (DNAse deficiencies, TREX)
  • NLRC4-associated AID
  • Outulin deficiency
  • Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA)
  • Periodic Fevers
  • Pyogenic Arthritis, Pyoderma gangrenosum and Acne (PAPA)
  • SAPHO Syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis)
  • Secondary amyloidosis
  • STING-associated vasculopathy with onset in infancy (SAVI)
  • Systemic amyloidosis
  • Systemic Autoinflammatory Disease (SAID)
  • TNF Receptor-Associated Periodic Syndrome (TRAPS) E85.0


Autoimmune disease


  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Autoimmune neuro-inflammatory disease
  • Balo Disease
  • Biotin-dependent carboxylase deficiency
  • Cogan’s syndrome
  • Cryoglobulinaemia: • essential • idiopathic • mixed • primary • secondary D89.1
  • Eosinophilic granulomatosis with polyangiitis (EGPA)
  • Granulomatosis with polyangiitis
  • Guillain-Barre Syndrome (GBS)
  • Hashimoto Encephalitis
  • Henoch-Schönlein purpura (HSP)
  • Idiopathic transverse myelitis
  • Inflammatory optic neuritis
  • Juvenile Dermatomyositis
  • Juvenile Idiopathic Arthritis (JIA)
  • Juvenile Spondyloarthritis/Enthesitis Related Arthritis (Spa-Era)
  • Localized Idiopathic Musculoskeletal Pain syndrome
  • Microscopic polyangiitis
  • Multifocal Motor Neuropathy (MMN)
  • Myasthenia Gravis (MG)
  • Neuromyelitis optica
  • Opsoclonus-myoclonus syndrome
  • Post infectious encephalitis
  • Primary CNS vasculitis or secondary to systemic diseases ( neuro-Behcet, neuro-lupus, neuro-sarcoidosis…)
  • Primary or secondary lymphohisticytosis affecting CNS
  • Rare central nervous and vascular disease
  • Rare Juvenile Primary Systemic Vasculitis
  • Rassmussen Encephalitis
  • Rhombencephalitis
  • Shilder disease
  • Spondyloenchondrodysplasia
  • Takayasu’s arteritis
  • Transverse myelitis
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