Autoimmunity, and Bronchiectasis

Diseases related with Autoimmunity and Bronchiectasis

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


Top matches:

Medium match IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA


IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

Medium match X-LINKED HYPER-IGM SYNDROME


Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003).For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

X-LINKED HYPER-IGM SYNDROME Is also known as hyper-igm syndrome 4|hyper-igm syndrome type 1|hyper-igm syndrome due to cd40l deficiency|higm1|xhigm|hyper-igm syndrome due to cd40 ligand deficiency

Related symptoms:

  • Immunodeficiency
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent upper respiratory tract infections
  • Myelodysplasia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED HYPER-IGM SYNDROME

Medium match IMMUNODEFICIENCY 36; IMD36


IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

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Other less relevant matches:

Medium match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY


IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

Medium match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Medium 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

Medium 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

Medium match AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Medium 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

Medium match DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME


Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET MENDELIAN

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Bronchiectasis

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Decreased antibody level in blood Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Autoimmune thrombocytopenia Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hemolytic anemia Autoimmune hemolytic anemia Lymphopenia Recurrent pneumonia Splenomegaly Diarrhea Recurrent bacterial infections Anemia Recurrent respiratory infections Lymphoma Recurrent bronchitis Recurrent upper respiratory tract infections Recurrent sinusitis IgG deficiency IgA deficiency Recurrent otitis media Pneumonia

Rare Symptoms - Less than 30% cases


Sinusitis Growth hormone deficiency Nail dystrophy Psoriasiform dermatitis Alopecia Purpura Neutropenia Respiratory failure Global developmental delay Impaired T cell function Abnormal lung morphology IgM deficiency Inflammatory abnormality of the skin Abnormal intestine morphology Thyroiditis Conjunctivitis Meningitis Otitis media Emphysema Recurrent sinopulmonary infections Vitiligo Growth delay Sepsis Myelodysplasia Recurrent infection of the gastrointestinal tract Fatigue Respiratory tract infection Hepatomegaly Failure to thrive Alopecia totalis Infantile spasms Full cheeks Coarctation of aorta Ventricular hypertrophy Mitral regurgitation Abnormality of the face Stridor Hoarse voice Aortic aneurysm Redundant skin Aortic regurgitation Heart block Pulmonary artery stenosis Heart murmur Cutis laxa Aortic root aneurysm Prematurely aged appearance Abnormal heart valve morphology Venous thrombosis Systemic lupus erythematosus Aortic dissection Abnormality of the liver Raynaud phenomenon Recurrent pharyngitis Hypotension Diplopia Absence seizures Hyponatremia Hyperkalemia Recurrent hypoglycemia Decreased circulating cortisol level Autoimmune antibody positivity Decreased circulating ACTH level Humoral immunodeficiency Hypoglycemic coma Adrenocorticotropin deficient adrenal insufficiency Decreased serum insulin-like growth factor 1 Severe viral infections Abnormal lymphocyte morphology Decreased circulating androgen level Abnormal size of pituitary gland Severe B lymphocytopenia Posterior pharyngeal cleft Autoimmune neutropenia Right ventricular hypertrophy Arthralgia Premature skin wrinkling Upper airway obstruction Subglottic stenosis Uterine prolapse Bowel diverticulosis Aortic rupture Repeated pneumothoraces Brachycephaly Elevated hepatic transaminase Gastrointestinal stroma tumor Pulmonic stenosis Anal atresia Vasculitis Failure to thrive in infancy Chronic otitis media Restrictive ventilatory defect Bronchitis Lymphoproliferative disorder B lymphocytopenia Joint hyperflexibility Hypoglycemia Skin rash Thrombocytopenia Hypothyroidism Glaucoma Blindness Intrauterine growth retardation Abnormal facial shape Immune dysregulation Chronic lung disease Severe combined immunodeficiency Increased antibody level in blood Combined immunodeficiency Cerebral palsy Leukoencephalopathy Recurrent urinary tract infections Hepatosplenomegaly Enlarged tonsils Dry skin Chronic lymphatic leukemia Allergy B-cell lymphoma Neurodevelopmental delay Inflammation of the large intestine Chronic diarrhea Arthritis Impaired Ig class switch recombination Absence of lymph node germinal center Osteomyelitis Recurrent mycobacterium avium complex infections Impaired memory B cell generation Increased IgM level Ectodermal dysplasia Postnatal growth retardation Ichthyosis Umbilical hernia Adrenal insufficiency Dyspnea Inguinal hernia Hernia Dilatation Renal insufficiency Respiratory distress Feeding difficulties Hypertelorism Generalized hypotonia Trachyonychia Central adrenal insufficiency Alopecia areata Adrenocorticotropic hormone deficiency Chronic sinusitis Asthma Eczema Folliculitis Recurrent skin infections Erythroderma Atopic dermatitis Severe intrauterine growth retardation Osteosarcoma Protein-losing enteropathy Erythroid dysplasia Dysphagia Neoplasm Carcinoma Follicular hyperplasia Gastrointestinal carcinoma Spasticity Gait disturbance Abnormality of the periungual region



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