Autoimmunity, and Sinusitis

Diseases related with Autoimmunity and Sinusitis

In the following list you will find some of the most common rare diseases related to Autoimmunity and Sinusitis that can help you solving undiagnosed cases.


Top matches:

Low match IDIOPATHIC CD4 LYMPHOCYTOPENIA


Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Low match COMPLEMENT COMPONENT 3 DEFICIENCY


Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.

COMPLEMENT COMPONENT 3 DEFICIENCY Is also known as c3 deficiency, autosomal recessive|c3 deficiency

Related symptoms:

  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Proteinuria
  • Respiratory tract infection


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMPLEMENT COMPONENT 3 DEFICIENCY

Low match PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS


Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.

PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS Is also known as persistent polyclonal b-cell lymphocytosis with binucleated lymphocytes|ppbl

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

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Other less relevant matches:

Low match IMMUNODEFICIENCY WITH FACTOR I ANOMALY


Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.

IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency|c3 inactivator deficiency

Related symptoms:

  • Fever
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2


IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 Is also known as antibody deficiency due to taci defect|hypogammaglobulinemia due to taci deficiency

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3


Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match COMMON VARIABLE IMMUNODEFICIENCY


Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Sinusitis

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Otitis media Common - Between 50% and 80% cases
Recurrent sinusitis Common - Between 50% and 80% cases
Recurrent bacterial infections Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Autoimmunity and Sinusitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Purpura Recurrent otitis media Pneumonia Anemia Lymphoma Hemolytic anemia Meningitis Autoimmune thrombocytopenia Hepatomegaly Glomerulonephritis Neoplasm Decreased antibody level in blood Lymphadenopathy IgM deficiency Recurrent respiratory infections Bronchiectasis Systemic lupus erythematosus Impaired T cell function Lymphopenia Respiratory tract infection Inflammatory abnormality of the skin Autoimmune hemolytic anemia

Rare Symptoms - Less than 30% cases


Erythema IgG deficiency Recurrent urinary tract infections Vasculitis Recurrent skin infections Diarrhea Psoriasiform dermatitis Recurrent pneumonia Conjunctivitis IgA deficiency Thyroiditis Recurrent sinopulmonary infections Recurrent bronchitis Arthralgia Increased antibody level in blood Carcinoma Lymphoproliferative disorder Skin rash Recurrent lower respiratory tract infections Recurrent viral infections Cerebral vasculitis Spasticity Autoimmune neutropenia Arthritis Asthma Proteinuria Recurrent upper respiratory tract infections Humoral immunodeficiency Renal insufficiency Nephritis Decreased serum complement C3 Tonsillitis Thrombocytopenia Hematuria Nephrotic syndrome Lymphocytosis Generalized lymphadenopathy Follicular hyperplasia Behavioral abnormality Tremor Motor delay Delayed speech and language development Muscular hypotonia Failure to thrive Ataxia Generalized hypotonia Intellectual disability Trachyonychia Emphysema Central adrenal insufficiency Adrenocorticotropic hormone deficiency Alopecia totalis Chronic sinusitis Gastrointestinal stroma tumor Vitiligo Adrenal insufficiency Recurrent infection of the gastrointestinal tract Growth hormone deficiency Nail dystrophy Hypoglycemia Alopecia areata Babinski sign Chronic otitis media Recurrent opportunistic infections Failure to thrive in infancy Abnormal intestine morphology Neutropenia Anal atresia Abnormality of the liver Elevated hepatic transaminase Brachycephaly Abnormality of B cell physiology Lymph node hypoplasia Brain abscess Abnormal T cell morphology Abnormal pyramidal sign Restrictive ventilatory defect Bronchitis Pure red cell aplasia Hypouricemia Spastic diplegia B lymphocytopenia Spastic tetraparesis Alopecia Spastic tetraplegia Tetraplegia Tetraparesis Fever Dysphagia Decreased serum complement factor H Leukemia Papilloma Bronchiolitis Leukocytosis Antinuclear antibody positivity Hodgkin lymphoma Chronic lymphatic leukemia Recurrent Haemophilus influenzae infections Glomerular deposits Decreased serum complement factor I Decreased serum complement factor B Opportunistic infection Recurrent meningitis Recurrent meningococcal disease Recurrent streptococcus pneumoniae infections Septic arthritis Mesangial hypercellularity Hemolytic-uremic syndrome Pyelonephritis Chronic kidney disease Squamous cell carcinoma Sepsis Bronchiolitis obliterans Gastrointestinal carcinoma Gait disturbance Hemiplegia Global developmental delay Anaphylactic shock Recurrent upper and lower respiratory tract infections Recurrent fungal infections Esophagitis Atopic dermatitis Subarachnoid hemorrhage Pericarditis Combined immunodeficiency Osteomyelitis Eosinophilia Bronchiolitis obliterans organizing pneumonia Abnormal lung morphology Eczema Microscopic hematuria Coarse facial features Abnormality of the dentition Membranous nephropathy Immune dysregulation Membranoproliferative glomerulonephritis Elevated erythrocyte sedimentation rate Shock Hepatosplenomegaly Posterior pharyngeal cleft



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