Failure to thrive, and Decreased antibody level in blood

Diseases related with Failure to thrive and Decreased antibody level in blood

In the following list you will find some of the most common rare diseases related to Failure to thrive and Decreased antibody level in blood that can help you solving undiagnosed cases.

Top matches:

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY Is also known as t-b+ scid due to jak3 deficiency|scid, t cell-negative, b cell-positive, nk cell-negative

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Pneumonia
  • Meningitis
  • Recurrent upper respiratory tract infections


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Is also known as hed-id|anhidrotic ectodermal dysplasia with immunodeficiency|eda-id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Other less relevant matches:

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

MANNOSE-BINDING LECTIN DEFICIENCY; MBLD Is also known as mbl deficiency|mbl2 deficiency|lcapd1|mannose-binding protein deficiency|mbp deficiency|lectin complement activation pathway, defect in, 1

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: MESH OMIM MENDELIAN

More info about MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY

HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3 Is also known as hyper-igm syndrome 3

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Respiratory distress
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE Is also known as il21-related infantile ibd|il21 deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE

AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 Is also known as agammaglobulinemia, autosomal recessive, due to cd79a defect

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Diarrhea
  • Respiratory tract infection
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency|tfrc-related combined immunodeficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Decreased antibody level in blood

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Meningitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Decreased antibody level in blood. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Respiratory tract infection Neutropenia Severe combined immunodeficiency Agammaglobulinemia Recurrent skin infections IgA deficiency Recurrent bacterial infections Sepsis

Rare Symptoms - Less than 30% cases

Hepatomegaly Otitis media Growth delay Panhypogammaglobulinemia Combined immunodeficiency Recurrent otitis media Leukoencephalopathy Delayed speech and language development Tremor Cardiomyopathy Atrial septal defect Intellectual disability, mild Abnormal heart morphology Intermittent thrombocytopenia Abnormality of the cerebral white matter Recurrent sinopulmonary infections Hoarse voice Absence seizures Bicuspid aortic valve Muscle weakness Recurrent respiratory infections Erythema Conjunctivitis Thrombocytopenia Anemia Recurrent bronchitis Bronchitis Recurrent pneumonia Hepatitis Short stature Inflammation of the large intestine Malnutrition Severe failure to thrive Recurrent aphthous stomatitis Clubbing Respiratory distress Global developmental delay Neoplasm Splenomegaly Eczematoid dermatitis Recurrent candida infections Recurrent upper respiratory tract infections Intestinal obstruction Abnormality of the lymph nodes Cutaneous anergy Ectodermal dysplasia Bronchiectasis Pulmonary insufficiency Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Intractable diarrhea Dysgammaglobulinemia Respiratory failure Seizures Recurrent Klebsiella infections Susceptibility to herpesvirus Recurrent meningococcal disease Disseminated cryptosporidium infection Cardiac arrest Osteomyelitis Hypoplasia of the thymus IgG deficiency Increased IgM level Impaired Ig class switch recombination Absence of lymph node germinal center IgE deficiency Impaired memory B cell generation Intellectual disability Chronic oral candidiasis


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