List of RITA’s conditions as of august 2017

ADA2 deficiency

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

Hyper IgD Syndrome (HIDS)/mevalonate kinase deficiency (MKD) E85.0

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

Aicardi-Goutières syndrome

Behcet’s Disease

Benign Hypermobility syndrome

Blau Syndrome

C1-inhibitor deficiency

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE)

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Chronic recurrent multifocal osteomyelitis (CRMO)

Cryopyrin-associated periodic syndromes (CAPS) E85.0

Deficiency of the IL-1 receptor antagonist (DIRA)

Deficiency of the IL-36-receptor antagonist (DITRA)

Familial cold autoinflammatory syndrome-2 (FCAS2) E85.0

Freiberg’s disease

Immune reconstitution inflammatory syndrome [IRIS] D89.3

Kawasaki disease

Osgood-Schlatter Disease

Osteochondrosis

Patellofemoral Pain

Rheumatic Fever

Sarcoidosis D86

Sarcoidosis of lung D86.0

Sarcoidosis of lung with sarcoidosis of lymph nodes D86.2

Sarcoidosis of lymph nodes D86.1

Sarcoidosis of other and combined sites D86.8

Sarcoidosis of skin D86.3

Sarcoidosis, unspecified D86.9

Sever’s disease

STING-associated vasculopathy with onset in infancy

Systemic Autoinflammatory Disease (SAID)

TNF Receptor-Associated Periodic Syndrome (TRAPS) E85.0

Transient Synovitis

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA)

Primary CNS vasculitis or secondary to systemic diseases ( neuro-Behcet, neuro-lupus, neuro-sarcoidosis…)

Primary or secondary lymphohisticytosis affecting CNS

Purine nucleoside phosphorylase [PNP] deficiency D81.5

Pyogenic Arthritis, Pyoderma gangrenosum and Acne (PAPA)

Rare Juvenile Primary Systemic Vasculitis

Rare systemic autoimmune vasculitis, including ANCA vasculitis, EGPA, anti-GBM disease, Takayasu’s arteritis

Rhombencephalitis

SAPHO Syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis)

Secondary amyloidosis

Shilder disease

Spondyloenchondrodysplasia

Systemic amyloidosis

Systemic autoimmune disease

Systemic Vasculitis

Takayasu’s disease

Transverse myelitis

Acute demyelinating encephalomyelitis

ANCA vasculitis

Anti Glomerular Basement membrane disease

Autoimmune bullous dermatoses

Auto-immune encephalitis (anti-RNMDA, anti-AMPA, anti-GABA, anti-GAD, anti-HU, anti-YO, anti-MA2, anti-MOG…)

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

Cryoglobulinaemic: • purpura • vasculitis

Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)

Erythromelalgia

Familial Mediterranean Fever (FMF) E85.0

Guillain-Barre Syndrome (GBS)

Hashimoto Encephalitis

Henoch-Schönlein purpura (HSP)

Inflammatory optic neuritis

Juvenile Dermatomyositis

Juvenile Idiopathic Arthritis (JIA)

Juvenile Spondyloarthritis/Enthesitis Related Arthritis (Spa-Era)

Legg-Calvé-Perthes disease

Localized Idiopathic Musculoskeletal Pain syndrome

Multifocal Motor Neuropathy (MMN)

Myasthenia Gravis (MG)

Neuromyelitis optica

Opsoclonus-myoclonus syndrome

Other histiocytosis syndromes

Other specified diseases with participation of lymphoreticular and reticulohistiocytic tissue

Takayasu arteritis

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