Autoimmunity, and Asthma

Diseases related with Autoimmunity and Asthma

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


Top matches:

Low match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Low match PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION


PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu|familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, plcg2-associated|plaid|familial atypical cold urticaria

Related symptoms:

  • Pain
  • Fever
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION

Low match PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID


PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

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Other less relevant matches:

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Low match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

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 PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Top 5 symptoms//phenotypes associated to Autoimmunity and Asthma

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Eczema Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Inflammatory abnormality of the skin Vasculitis Lymphadenopathy Skin rash Fever Failure to thrive Hemolytic anemia Episodic fever Global developmental delay Elevated erythrocyte sedimentation rate Arthralgia Generalized hypotonia Erythema Pain Meningitis Pericarditis Immune dysregulation Arthritis

Rare Symptoms - Less than 30% cases


Abnormal facial shape Hepatomegaly Bronchiectasis Splenomegaly Purpura Atopic dermatitis Combined immunodeficiency Camptodactyly Malabsorption Recurrent skin infections Recurrent respiratory infections Myalgia Hepatosplenomegaly Sinusitis Nephrotic syndrome Recurrent bacterial infections Autoimmune hemolytic anemia Seizures Recurrent lower respiratory tract infections Abdominal pain Pleuritis Chest pain Neoplasm Abnormal lung morphology Vitiligo Pneumonia Systemic lupus erythematosus Antinuclear antibody positivity Lymphoma Inflammation of the large intestine Eosinophilia Leukopenia Allergic rhinitis Thrombocytopenia Scoliosis Erysipelas Congenital hypoplastic anemia Ataxia Sensorineural hearing impairment Rheumatoid arthritis Cognitive impairment Stiff neck Short stature High palate Dysarthria Brachydactyly Synovitis Abnormality of the skeletal system Decreased circulating aldosterone level Hyporeflexia Hearing impairment Intellectual disability Gastrointestinal infarctions Chronic sinusitis Nail dystrophy Decreased antibody level in blood Growth hormone deficiency Recurrent meningitis Psoriasiform dermatitis Adrenal insufficiency Autoimmune thrombocytopenia Alopecia totalis Renal amyloidosis Serositis Adrenocorticotropic hormone deficiency Alopecia areata Central adrenal insufficiency Trachyonychia Myoclonus Azotemia Peritonitis Abnormality of the nervous system Anemia of inadequate production Nausea Constipation Acidosis Proteinuria Amyloidosis Abnormality of the kidney Nausea and vomiting Stage 5 chronic kidney disease Nephropathy Headache Ascites Myocardial infarction Osteoarthritis Nephrocalcinosis Pancreatitis Chronic kidney disease Hyperkalemia Leukocytosis Arrhythmia Renal insufficiency Gastroesophageal reflux Sensory impairment Oral leukoplakia Conductive hearing impairment Intestinal obstruction Acute hepatic failure Edema of the lower limbs Respiratory tract infection Neutropenia Lymphopenia Cortical myoclonus Narrow palpebral fissure Glomerulonephritis Severe combined immunodeficiency Gout Increased serum ferritin Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Hypoglycemia Oral ulcer Alopecia Respiratory failure Cervical lymphadenopathy Low-set ears Macrocephaly Frontal bossing Clinodactyly Posteriorly rotated ears Diabetes mellitus Proptosis Lymphocytosis Hypothyroidism Dolichocephaly Hepatitis Chronic diarrhea Type I diabetes mellitus Short chin Abnormal intestine morphology Relative macrocephaly Decreased mean platelet volume Abnormal thrombocyte morphology Chronic lung disease Refractory anemia Leukemia Bone marrow hypocellularity Melanoma Myelodysplasia Myeloid leukemia Acute myeloid leukemia Acute monocytic leukemia Monocytosis Cold urticaria Chronic myelomonocytic leukemia Erythroid dysplasia Pruritus Syncope Urticaria Hashimoto thyroiditis Chills Angioedema Prominent occiput Interstitial pneumonitis Dysphagia Subarachnoid hemorrhage Coarse facial features Otitis media Recurrent otitis media Hemiplegia Osteomyelitis Increased antibody level in blood Recurrent sinusitis Esophagitis Episodic abdominal pain Recurrent viral infections Recurrent sinopulmonary infections Recurrent fungal infections Cerebral vasculitis Recurrent upper and lower respiratory tract infections Anaphylactic shock Spasticity Gait disturbance Abnormality of the dentition Xerostomia Muscular hypotonia Anhidrosis Myopathy Nail dysplasia Hypoplasia of dental enamel Hypohidrosis Recurrent pneumonia Abnormality of dental enamel Sarcoma Hypoplasia of the iris Uveitis Amelogenesis imperfecta Intermittent diarrhea Weight loss Papule Ventricular hypertrophy Nephrolithiasis Blurred vision Keratoconjunctivitis sicca Orchitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Abnormality of the eye, related diseases and genetic alterations

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